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Human Gene Search Results


Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
# of Reports
Primary Reference
Display
 
  GEN268
  ABAT
  4-aminobutyrate aminotransferase
  16
  Genetic Association
  4
  Edit
 
  GEN749
  ABCA10
  ATP-binding cassette, sub-family A (ABC1), member 10
  17
  Rare single gene variant
  1
  Edit
 
  GEN590
  ABCA7
  ATP-binding cassette, sub-family A (ABC1), member 7
  19
  Rare single gene variant
  2
  Edit
 
  GEN822
  ACE
  angiotensin I converting enzyme 
  17
  Rare single gene variant
  2
  Edit
 
  GEN771
  ACHE
  Acetylcholinesterase (Yt blood group) 
  7
  Rare single gene variant
  4
  Edit
 
  GEN672
  ACTN4
  Actinin, alpha 4
  19
  Rare single gene variant
  3
  Edit
 
  GEN573
  ACY1
  Aminoacylase 1
  3
  Syndromic
  5
  Edit
 
  GEN002
  ADA
  adenosine deaminase
  20
  Genetic Association
  5
  Edit
 
  GEN567
  ADAM metallopeptidase with thrombospondin type 1 motif, 18
  16
  Rare single gene variant
  1
  Edit
 
  GEN407
  ADARB1
  Adenosine deaminase, RNA-specific, B1
  21
  Functional
  2
  Edit
 
  GEN470
  ADCY5
  Adenylate cyclase 5
  3
  Rare Single Gene variant
  4
  Edit
 
  GEN274
  ADK
  adenosine kinase
  10
  Rare Single Gene variant
  1
  Edit
 
  GEN471
  ADNP
  Activity-dependent neuroprotector homeobox
  20
  Rare Single Gene variant
  18
  Edit
 
  GEN003
  adenosine A2a receptor
  22
  Syndromic
  7
  Edit
 
  GEN562
  ADORA3
  Adenosine A3 receptor
  1
  Functional
  2
  Edit
 
  GEN004
  ADRB2
  adrenergic, beta-2-, receptor, surface
  5
  Genetic Association
  10
  Edit
 
  GEN005
  ADSL
  adenylosuccinate lyase
  22
  Rare Single Gene variant
  5
  Edit
 
  GEN289
  AFF2
  AF4/FMR2 family, member 2
  X
  Syndromic
  13
  Edit
 
  GEN006
  AFF4
  AF4/FMR2 family, member 4
  5
  Rare Single Gene variant
  7
  Edit
 
  GEN047
  AGAP1
  ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
  2
  Rare Single Gene variant, Genetic Association
  8
  Edit
 
  GEN333
  AGBL4
  ATP/GTP binding protein-like 4
  1
  Rare Single Gene variant
  3
  Edit
 
  GEN253
  AGMO
  alkylglycerol monooxygenase
  7
  Genetic Association
  5
  Edit
 
  GEN007
  AGTR2
  angiotensin II receptor, type 2
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN824
  AHDC1
  AT-hook DNA binding motif containing 1
  1
  Syndromic
  6
  Edit
 
  GEN008
  AHI1
  Abelson helper integration site 1
  6
  Rare Single Gene variant
  18
  Edit
 
  GEN761
  AKAP9
  A kinase (PRKA) anchor protein 9 
  7
  Rare single gene variant
  4
  Edit
 
  GEN510
  Aldehyde dehydrogenase 1 family, member A3
  15
  Syndromic
  5
  Edit
 
  GEN009
  aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )
  6
  Syndromic
  9
  Edit
 
  GEN830
  ALG6
  ALG6, alpha-1,3-glucosyltransferase
  1
  Syndromic
  1
  Edit
 
  GEN010
  arachidonate 5-lipoxygenase-activating protein
  3
  Functional
  4
  Edit
 
  GEN631
  AMPD1
  Adenosine monophosphate deaminase 1
  1
  Genetic association
  3
  Edit
 
  GEN526
  AMT
  Aminomethyltransferase
  3
  Rare single gene variant
  1
  Edit
 
  GEN587
  ANK2
  Ankyrin 2, neuronal
  4
  Rare Single Gene variant
  9
  Edit
 
  GEN406
  ANK3
  Ankyrin 3, node of Ranvier (ankyrin G)
  10
  Genetic Association
  20
  Edit
 
  GEN011
  ankyrin repeat domain 11
  16
  Rare Single Gene variant
  27
  Edit
 
  GEN673
  ANKS1B
  Ankyrin repeat and sterile alpha motif domain containing 1B
  12
  Rare single gene variant
  1
  Edit
 
  GEN609
  ANXA1
  Annexin A1
  9
  Rare single gene variant
  2
  Edit
 
  GEN531
  AP1S2
  Adaptor-related protein complex 1, sigma 2 subunit
  X
  Syndromic
  5
  Edit
 
  GEN012
  APBA2
  amyloid beta (A4) precursor protein-binding, family A, member 2
  15
  Rare Single Gene variant
  6
  Edit
 
  GEN013
  APC
  adenomatosis polyposis coli
  5
  Genetic Association
  9
  Edit
 
  GEN655
  APH1A
  APH1A gamma secretase subunit 
  1
  Rare single gene variant
  2
  Edit
 
  GEN570
  APP
  Amyloid beta (A4) precursor protein
  21
  Functional
  3
  Edit
 
  GEN014
  AR
  androgen receptor
  X
  Genetic Association
  6
  Edit
 
  GEN317
  Rho GTPase activating protein 11B
  15
  Rare Single Gene variant
  1
  Edit
 
  GEN015
  Rho GTPase activating protein 15
  2
  Rare Single Gene variant
  7
  Edit
 
  GEN424
  Rho GTPase activating protein 24
  4
  Rare single gene variant
  1
  Edit
 
  GEN816
  Rho GTPase activating protein 32
  11
  Multigenic CNV
  4
  Edit
 
  GEN713
  Rho GTPase activating protein 33
  19
  Functional
  2
  Edit
 
  GEN715
  Cdc42 guanine nucleotide exchange factor (GEF) 9
  X
  Rare single gene variant
  4
  Edit
 
  GEN357
  ARID1B
  AT rich interactive domain 1B (SWI1-like)
  6
  Rare single gene variant
  23
  Edit
 
  GEN016
  ARNT2
  aryl-hydrocarbon receptor nuclear translocator 2
  15
  Syndromic
  11
  Edit
 
  GEN017
  ARX
  aristaless related homeobox
  X
  Rare single gene variant
  12
  Edit
 
  GEN642
  ASH1L
  Ash1 (absent, small, or homeotic)-like (Drosophila)
  1
  Rare single gene variant
  8
  Edit
 
  GEN018
  ASMT
  acetylserotonin O-methyltransferase
  X,Y
  Rare Single Gene variant, Genetic Association
  9
  Edit
 
  GEN019
  ASS1
  argininosuccinate synthetase
  9
  Functional
  3
  Edit
 
  GEN020
  ASTN2
  astrotactin 2
  9
  Rare Single Gene variant
  10
  Edit
 
  GEN577
  ASXL3
  Additional sex combs like 3 (Drosophila)
  18
  Syndromic
  8
  Edit
 
  GEN623
  ATG7
  Autophagy related 7
  3
  Functional
  2
  Edit
 
  GEN021
  ATP10A
  Probable phospholipid-transporting ATPase VA
  15
  Genetic Association
  7
  Edit
 
  GEN829
  ATP1A3
  ATPase Na+/K+ transporting subunit alpha 3
  19
  Syndromic
  8
  Edit
 
  GEN273
  ATP2B2
  ATPase, Ca++ transporting, plasma membrane 2
  3
  Genetic Association
  6
  Edit
 
  GEN831
  ATP8A1
  ATPase phospholipid transporting 8A1 
  4
  Functional
  1
  Edit
 
  GEN411
  ATRNL1
  Attractin-like 1
  10
  Rare single gene variant
  1
  Edit
 
  GEN288
  ATRX
  alpha thalassemia/mental retardation syndrome X-linked
  X
  Syndromic
  13
  Edit
 
  GEN384
  ATXN7
  Ataxin 7
  3
  Rare single gene variant
  1
  Edit
 
  GEN022
  AUTS2
  autism susceptibility candidate 2
  7
  Rare Single Gene variant
  29
  Edit
 
  GEN788
  AVP
  Arginine vasopressin
  20
  Functional
  4
  Edit
 
  GEN023
  AVPR1A
  arginine vasopressin receptor 1A
  12
  Rare Single Gene variant, Genetic Association
  18
  Edit
 
  GEN862
  AVPR1B
  arginine vasopressin receptor 1B
  1
  Functional
  8
  Edit
 
  GEN024
  BAIAP2
  BAI1-associated protein 2
  17
  Genetic Association
  10
  Edit
 
  GEN515
  BBS4
  Bardet-Biedl syndrome 4
  15
  Rare single gene variant
  2
  Edit
 
  GEN674
  BCAS1
  Breast carcinoma amplified sequence 1
  20
  Rare single gene variant
  2
  Edit
 
  GEN423
  BCKDK
  Branched chain ketoacid dehydrogenase kinase
  16
  Rare single gene variant
  3
  Edit
 
  GEN643
  BCL11A
  B-cell CLL/lymphoma 11A (zinc finger protein)
  2
  Rare single gene variant
  11
  Edit
 
  GEN025
  BCL2
  B-cell CLL/lymphoma 2
  18
  Functional
  10
  Edit
 
  GEN625
  BDNF
  Brain-derived neurotrophic factor 
  11
  Functional
  9
  Edit
 
  GEN425
  BIN1
  Bridging integrator 1
  2
  Rare single gene variant
  3
  Edit
 
  GEN702
  BIRC6
  Baculoviral IAP repeat containing 6
  2
  Rare single gene variant
  4
  Edit
 
  GEN595
  BRAF
  v-raf murine sarcoma viral oncogene homolog B
  7
  Syndromic
  7
  Edit
 
  GEN337
  BRCA2
  breast cancer 2, early onset
  13
  Rare Single Gene variant
  3
  Edit
 
  GEN820
  BRINP1
  BMP/retinoic acid inducible neural specific 1
  9
  Functional
  2
  Edit
 
  GEN298
  BTAF1
  RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)
  10
  Rare Single Gene variant
  4
  Edit
 
  GEN026
  BZRAP1
  benzodiazapine receptor (peripheral) associated protein 1
  17
  Rare Single Gene variant
  5
  Edit
 
  GEN669
  Chromosome 11 open reading frame 30
  11
  Rare single gene variant
  3
  Edit
 
  GEN544
  Chromosome 12 open reading frame 57
  12
  Syndromic
  8
  Edit
 
  GEN027
  chromosome 15 open reading frame 43
  15
  Rare Single Gene variant
  1
  Edit
 
  GEN028
  chromosome 3 open reading frame 58
  3
  Rare Single Gene variant
  3
  Edit
 
  GEN029
  C4B
  complement component 4B
  6
  Genetic Association
  5
  Edit
 
  GEN030
  CA6
  carbonic anhydrase VI
  1
  Rare Single Gene variant
  6
  Edit
 
  GEN707
  Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  19
  Rare single gene variant
  8
  Edit
 
  GEN408
  Calcium channel, voltage-dependent, N type, alpha 1B subunit
  9
  Genetic association
  6
  Edit
 
  GEN031
  calcium channel, voltage-dependent, L type, alpha 1C subunit
  12
  Syndromic
  37
  Edit
 
  GEN032
  calcium channel, voltage-dependent, L type, alpha 1D
  3
  Functional
  11
  Edit
 
  GEN813
  calcium voltage-gated channel subunit alpha1 E
  1
  Rare single gene variant
  7
  Edit
 
  GEN033
  calcium channel, voltage-dependent, alpha 1F
  X
  Genetic Association
  7
  Edit
 
  GEN034
  calcium channel, voltage-dependent, T type, alpha 1G subunit
  17
  Genetic Association
  17
  Edit
 
  GEN035
  calcium channel, voltage-dependent, alpha 1H subunit
  16
  Rare Single Gene variant
  20
  Edit
 
  GEN488
  Calcium channel, voltage-dependent, T type, alpha 1I subunit
  22
  Genetic association
  5
  Edit
 
  GEN656
  Calcium channel, voltage-dependent, alpha 2/delta subunit 3
  3
  Rare single gene variant
  4
  Edit
 
  GEN612
  CACNB2
  Calcium channel, voltage-dependent, beta 2 subunit
  10
  Genetic association
  3
  Edit
 
  GEN036
  CADM1
  cell adhesion molecule 1
  11
  Rare Single Gene variant
  8
  Edit
 
  GEN670
  CADM2
  Cell adhesion molecule 2
  3
  Genetic association
  3
  Edit
 
  GEN037
  CADPS2
  Ca2+-dependent activator protein for secretion 2
  7
  Rare Single Gene variant
  12
  Edit
 
  GEN864
  CAMK2A
  calcium/calmodulin dependent protein kinase II alpha
  5
  Rare single gene variant
  2
  Edit
 
  GEN594
  CAMK4
  Calcium/calmodulin-dependent protein kinase IV
  5
  Genetic association
  1
  Edit
 
  GEN322
  calmodulin regulated spectrin-associated protein family, member 2
  1
  Rare Single Gene variant
  1
  Edit
 
  GEN291
  CAMTA1
  calmodulin binding transcription activator 1
  1
  Rare single gene variant
  6
  Edit
 
  GEN772
  CAPN12
  Calpain 12
  19
  Rare single gene variant
  4
  Edit
 
  GEN555
  Cell cycle associated protein 1
  11
  Functional
  3
  Edit
 
  GEN038
  CASC4
  cancer susceptibility candidate 4
  15
  Rare Single Gene variant
  4
  Edit
 
  GEN876
  CASK
  calcium/calmodulin dependent serine protein kinase 
  X
  Syndromic
  7
  Edit
 
  GEN039
  CBS
  cystathionine beta-synthase
  21
  Functional, Negative association
  4
  Edit
 
  GEN621
  CC2D1A
  Coiled-coil and C2 domain containing 1A
  19
  Rare single gene variant
  9
  Edit
 
  GEN040
  CCDC64
  coiled-coil domain containing 64
  12
  Genetic Association
  2
  Edit
 
  GEN735
  Coiled-coil domain containing 88C
  14
  Rare single gene variant
  4
  Edit
 
  GEN799
  CCDC91
  coiled-coil domain containing 91 
  12
  Rare single gene variant
  3
  Edit
 
  GEN752
  CCT4
  Chaperonin containing TCP1, subunit 4 (delta) 
  2
  Rare single gene variant
  3
  Edit
 
  GEN328
  CD38
  CD38 molecule
  4
  Genetic Association
  6
  Edit
 
  GEN041
  CD44
  CD44 molecule (Indian blood group)
  11
  Functional
  3
  Edit
 
  GEN380
  CD99L2
  CD99 molecule-like 2
  X
  Genetic association
  1
  Edit
 
  GEN657
  CDC42 binding protein kinase beta (DMPK-like) 
  14
  Rare single gene variant
  5
  Edit
 
  GEN042
  CDH10
  cadherin 10, type 2 (T2-cadherin)
  5
  Genetic Association
  9
  Edit
 
  GEN615
  CDH11
  Cadherin 11, type 2, OB-cadherin (osteoblast)
  16
  Rare Single Gene variant/genetic association
  3
  Edit
 
  GEN043
  CDH22
  cadherin-like 22
  20
  Genetic Association
  4
  Edit
 
  GEN044
  CDH8
  cadherin 8, type 2
  16
  Rare Single Gene variant
  9
  Edit
 
  GEN045
  CDH9
  cadherin 9, type 2 (T1-cadherin)
  5
  Genetic Association
  6
  Edit
 
  GEN046
  CDKL5
  cyclin-dependent kinase-like 5
  X
  Syndromic
  28
  Edit
 
  GEN532
  CDKN1B
  Cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  12
  Multigenic CNV/rare single gene variant
  1
  Edit
 
  GEN507
  CECR2
  Cat eye syndrome chromosome region, candidate 2
  22
  Rare single gene variant
  2
  Edit
 
  GEN487
  CELF4
  CUGBP, Elav-like family member 4
  18
  Functional
  6
  Edit
 
  GEN523
  CELF6
  CUGBP, Elav-like family member 6
  15
  Genetic association/Rare single gene variant/Functional
  1
  Edit
 
  GEN583
  CEP290
  Centrosomal protein 290kDa
  12
  Syndromic
  6
  Edit
 
  GEN257
  CEP41
  testis specific, 14
  7
  Rare Single Gene variant
  3
  Edit
 
  GEN718
  CGNL1
  Cingulin-like 1
  15
  Rare single gene variant
  2
  Edit
 
  GEN548
  CHD2
  Chromodomain helicase DNA binding protein 2
  15
  Multigenic CNV
  18
  Edit
 
  GEN280
  CHD7
  chromodomain helicase DNA binding protein 7
  8
  Syndromic
  17
  Edit
 
  GEN334
  CHD8
  chromodomain helicase DNA binding protein 8
  14
  Rare Single Gene variant
  22
  Edit
 
  GEN741
  CHKB
  Choline kinase beta
  22
  Syndromic
  3
  Edit
 
  GEN490
  CHRM3
  Cholinergic receptor, muscarinic 3
  1
  Multigenic CNV
  3
  Edit
 
  GEN292
  CHRNA7
  cholinergic receptor, nicotinic, alpha 7
  15
  Rare single gene variant
  11
  Edit
 
  GEN498
  CHRNB3
  Cholinergic receptor, nicotinic, beta 3 (neuronal)
  8
  Rare single gene variant
  1
  Edit
 
  GEN048
  CHST5
  carbohydrate sulfotransferase 5
  16
  Rare Single Gene variant
  5
  Edit
 
  GEN500
  CIB2
  Calcium and integrin binding family member 2
  15
  Rare single gene variant
  1
  Edit
 
  GEN710
  CLN8
  Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  8
  Syndromic
  3
  Edit
 
  GEN579
  CLSTN3
  Calsyntenin 3
  12
  Functional
  2
  Edit
 
  GEN349
  CLTCL1
  clathrin, heavy chain-like 1
  22
  Rare single gene variant
  4
  Edit
 
  GEN382
  CMIP
  c-Maf inducing protein
  16
  Genetic Association
  5
  Edit
 
  GEN865
  CNKSR2
  connector enhancer of kinase suppressor of Ras 2
  X
 
  1
  Edit
 
  GEN866
  CNOT3
  CCR4-NOT transcription complex subunit 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN049
  CNR1
  cannabinoid receptor 1 (brain)
  6
  Genetic Association
  6
  Edit
 
  GEN537
  CNR2
  Cannabinoid receptor 2 (macrophage)
  1
  Genetic association
  3
  Edit
 
  GEN306
  CNTN3
  contactin 3 (plasmacytoma associated)
  3
  Rare Single Gene variant
  4
  Edit
 
  GEN050
  CNTN4
  contactin 4
  3
  Syndromic
  17
  Edit
 
  GEN385
  CNTN5
  Contactin 5
  11
  Rare single gene variant
  9
  Edit
 
  GEN386
  CNTN6
  Contactin 6
  3
  Rare single gene variant
  9
  Edit
 
  GEN051
  contactin associated protein-like 2
  7
  Syndromic
  54
  Edit
 
  GEN307
  contactin associated protein-like 3
  9
  Rare Single Gene variant
  1
  Edit
 
  GEN616
  Contactin associated protein-like 4
  16
  Rare Single Gene variant
  9
  Edit
 
  GEN052
  contactin associated protein-like 5
  2
  Genetic Association
  10
  Edit
 
  GEN285
  CREBBP
  CREB binding protein
  16
  Syndromic
  14
  Edit
 
  GEN844
  CRHR2
  corticotropin releasing hormone receptor 2
  7
  Functional
  3
  Edit
 
  GEN596
  CSMD1
  CUB and Sushi multiple domains 1
  8
  Rare Single Gene variant
  9
  Edit
 
  GEN330
  CSNK1D
  casein kinase 1, delta
  17
  Rare Single Gene variant
  1
  Edit
 
  GEN549
  CTCF
  CCCTC-binding factor (zinc finger protein)
  16
  Functional
  9
  Edit
 
  GEN053
  CTNNA3
  catenin (cadherin-associated protein), alpha 3
  10
  Genetic Association
  13
  Edit
 
  GEN472
  CTNNB1
  Catenin (cadherin-associated protein), beta 1, 88kDa
  3
  Rare Single Gene variant
  16
  Edit
 
  GEN711
  CTNND2
  Catenin (cadherin-associated protein), delta 2
  5
  Rare single gene variant
  4
  Edit
 
  GEN054
  cortactin binding protein 2
  7
  Rare Single Gene variant
  6
  Edit
 
  GEN409
  CUL3
  Cullin 3
  2
  Rare single gene variant
  12
  Edit
 
  GEN719
  CUL7
  Cullin 7
  6
  Rare single gene variant
  3
  Edit
 
  GEN847
  CUX1
  cut like homeobox 1
  7
  Functional
  3
  Edit
 
  GEN599
  CX3CR1
  Chemokine (C-X3-C motif) receptor 1
  3
  Functional
  2
  Edit
 
  GEN055
  CXCR3
  chemokine (C-X-C motif) receptor 3
  X
  Rare Single Gene variant
  8
  Edit
 
  GEN320
  CYFIP1
  cytoplasmic FMR1 interacting protein 1
  15
  Multigenic CNV
  13
  Edit
 
  GEN801
  CYLC2
  cylicin, basic protein of sperm head cytoskeleton 2 
  9
  Rare single gene variant
  3
  Edit
 
  GEN056
  cytochrome P450, family 11, subfamily B, polypeptide 1
  8
  Syndromic
  4
  Edit
 
  GEN057
  DAB1
  disabled homolog 1 (Drosophila)
  1
  Functional
  7
  Edit
 
  GEN508
  DAGLA
  Diacylglycerol lipase, alpha
  11
  Rare single gene variant
  2
  Edit
 
  GEN058
  DAPK1
  death-associated protein kinase 1
  9
  Functional
  5
  Edit
 
  GEN494
  DAPP1
  Dual adaptor of phosphotyrosine and 3-phosphoinositides
  4
  Rare single gene variant
  1
  Edit
 
  GEN059
  DCTN5
  dynactin 5
  16
  Rare Single Gene variant
  3
  Edit
 
  GEN060
  DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
  3
  Functional
  3
  Edit
 
  GEN061
  DCX
  doublecortex, lissencephaly, X-linked (doublecortin)
  X
  Rare Single Gene variant
  6
  Edit
 
  GEN378
  DDC
  Dopa decarboxylase (aromatic L-amino acid decarboxylase)
  7
  Genetic association
  2
  Edit
 
  GEN062
  DDX11
  DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11
  12
  Functional
  3
  Edit
 
  GEN745
  DDX3X
  DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
  X
  Rare single gene variant
  4
  Edit
 
  GEN332
  DDX53
  DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN610
  DEAF1
  DEAF1 transcription factor
  11
  Rare single gene variant
  11
  Edit
 
  GEN825
  DENR
  density-regulated protein
  12
  Rare single gene variant
  2
  Edit
 
  GEN541
  DEPDC5
  DEP domain containing 5
  22
  Syndromic
  3
  Edit
 
  GEN833
  DGKK
  diacylglycerol kinase kappa 
  X
  Functional
  1
  Edit
 
  GEN675
  DGKZ
  Diacylglycerol kinase, zeta
  11
  Rare single gene variant
  2
  Edit
 
  GEN063
  DHCR7
  7-dehydrocholesterol reductase
  11
  Syndromic
  12
  Edit
 
  GEN064
  DIAPH3
  Diaphanous-related formin 3
  13
  Rare Single Gene variant
  10
  Edit
 
  GEN644
  DIP2A
  DIP2 disco-interacting protein 2 homolog A (Drosophila)
  21
  Rare single gene variant
  4
  Edit
 
  GEN065
  DISC1
  disrupted in schizophrenia 1
  1
  Syndromic
  32
  Edit
 
  GEN852
  DIXDC1
  DIX domain containing 1
  11
  Functional
  4
  Edit
 
  GEN676
  DLG1
  Discs, large homolog 1 (Drosophila)
  3
  Rare single gene variant
  2
  Edit
 
  GEN412
  DLG4
  Discs, large homolog 4 (Drosophila)
  17
  Functional
  8
  Edit
 
  GEN677
  DLGAP1
  Discs, large (Drosophila) homolog-associated protein 1
  18
  Rare single gene variant
  5
  Edit
 
  GEN066
  DLGAP2
  discs, large (Drosophila) homolog-associated protein 2
  8
  Rare Single Gene variant
  12
  Edit
 
  GEN550
  DLGAP3
  Discs, large (Drosophila) homolog-associated protein 3
  1
  Functional
  7
  Edit
 
  GEN067
  DLX1
  distal-less homeobox 1
  2
  Genetic Association
  8
  Edit
 
  GEN068
  DLX2
  distal-less homeobox 2
  2
  Genetic Association
  11
  Edit
 
  GEN069
  DLX6
  distal-less homeobox 6
  7
  Rare Single Gene variant
  8
  Edit
 
  GEN070
  DMD
  dystrophin (muscular dystrophy, Duchenne and Becker types)
  X
  Syndromic
  34
  Edit
 
  GEN071
  DMPK
  dystrophia myotonica-protein kinase
  19
  Syndromic
  7
  Edit
 
  GEN736
  DMXL2
  Dmx-like 2 
  15
  Rare single gene variant
  2
  Edit
 
  GEN703
  DNAH10
  Dynein, axonemal, heavy chain 10
  12
  Rare single gene variant
  4
  Edit
 
  GEN426
  DnaJ (Hsp40) homolog, subfamily C, member 19
  3
  Functional
  1
  Edit
 
  GEN395
  DNER
  Delta/notch-like EGF repeat containing
  2
  Genetic association
  2
  Edit
 
  GEN427
  DNM1L
  Dynamin 1-like
  12
  Functional
  1
  Edit
 
  GEN762
  DNMT3A
  DNA (cytosine-5-)-methyltransferase 3 alpha 
  2
  Rare single gene variant
  6
  Edit
 
  GEN748
  DOCK1
  Dedicator of cytokinesis 1 
  10
  Rare single gene variant
  2
  Edit
 
  GEN539
  DOCK10
  Dedicator of cytokinesis 10
  2
  Rare single gene variant
  1
  Edit
 
  GEN603
  DOCK4
  Dedicator of cytokinesis 4
  7
  Genetic association/multigenic CNV
  7
  Edit
 
  GEN853
  DOCK8
  dedicator of cytokinesis 8
  9
  Rare single gene variant
  5
  Edit
 
  GEN557
  DOLK
  Dolichol kinase
  9
  Syndromic
  1
  Edit
 
  GEN072
  DPP10
  Dipeptidyl-peptidase 10
  2
  Rare Single Gene variant
  10
  Edit
 
  GEN750
  DPP4
  Dipeptidyl-peptidase 4 
  2
  Rare single gene variant
  5
  Edit
 
  GEN073
  DPP6
  dipeptidyl-peptidase 6
  7
  Genetic Association
  23
  Edit
 
  GEN074
  DPYD
  dihydropyrimidine dehydrogenase
  1
  Rare Single Gene variant
  7
  Edit
 
  GEN576
  DRD1
  Dopamine receptor D1
  5
  Genetic association
  4
  Edit
 
  GEN358
  DRD2
  Dopamine receptor D2
  11
  Rare single gene variant
  4
  Edit
 
  GEN075
  DRD3
  dopamine receptor D3
  3
  Genetic Association
  8
  Edit
 
  GEN645
  DSCAM
  Down syndrome cell adhesion molecule
  21
  Rare single gene variant
  5
  Edit
 
  GEN581
  DST
  Dystonin
  6
  Rare single gene variant
  4
  Edit
 
  GEN836
  DUSP15
  dual specificity phosphatase 15
  20
  Rare single gene variant
  2
  Edit
 
  GEN323
  DUSP22
  dual specificity phosphatase 22
  6
  Rare Single Gene variant
  1
  Edit
 
  GEN796
  DVL1
  Dishevelled segment polarity protein 1
  1
  Functional
  3
  Edit
 
  GEN797
  DVL3
  Dishevelled segment polarity protein 3
  3
  Rare single gene variant
  3
  Edit
 
  GEN516
  DYDC1
  DPY30 domain containing 1
  10
  Multigenic CNV
  1
  Edit
 
  GEN517
  DYDC2
  DPY30 domain containing 2
  10
  Multigenic CNV
  1
  Edit
 
  GEN367
  DYRK1A
  Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
  21
  Syndromic
  28
  Edit
 
  GEN608
  EEF1A2
  Eukaryotic translation elongation factor 1 alpha 2
  20
  Syndromic
  7
  Edit
 
  GEN613
  EFR3A
  EFR3 homolog A (S. cerevisiae)
  8
  Rare Single Gene variant
  5
  Edit
 
  GEN076
  EGR2
  early growth response 2 (Krox-20 homolog, Drosophila)
  10
  Functional
  4
  Edit
 
  GEN344
  EHMT1
  Euchromatic histone-lysine N-methyltransferase 1
  9
  Syndromic
  16
  Edit
 
  GEN808
  EIF3G
  eukaryotic translation initiation factor 3 subunit G 
  19
  Rare single gene variant
  3
  Edit
 
  GEN077
  EIF4E
  eukaryotic translation initiation factor 4E
  4
  Rare single gene variant
  12
  Edit
 
  GEN479
  Eukaryotic translation initiation factor 4E binding protein 2
  10
  Functional
  1
  Edit
 
  GEN826
  ELAVL2
  ELAV like neuron-specific RNA binding protein 2
  9
  Rare single gene variant
  4
  Edit
 
  GEN753
  ELAVL3
  ELAV like neuron-specific RNA binding protein 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN733
  ELP4
  Elongator acetyltransferase complex subunit 4
  11
  Multigenic CNV
  5
  Edit
 
  GEN282
  EML1
  echinoderm microtubule associated protein like 1
  14
  Rare Single Gene variant
  2
  Edit
 
  GEN078
  EN2
  engrailed homolog 2
  7
  Genetic Association
  19
  Edit
 
  GEN308
  EP300
  E1A binding protein p300
  22
  Syndromic
  13
  Edit
 
  GEN353
  EP400
  E1A binding protein p400
  12
  Rare single gene variant
  5
  Edit
 
  GEN365
  EPC2
  Enhancer of polycomb homolog 2 (Drosophila)
  2
  Rare single gene variant
  4
  Edit
 
  GEN079
  EPHA6
  EPH receptor A6
  3
  Rare Single Gene variant
  6
  Edit
 
  GEN410
  EPHB2
  EPH receptor B2
  1
  Rare single gene variant
  3
  Edit
 
  GEN080
  EPHB6
  EPH receptor B6
  7
  Rare Single Gene variant
  5
  Edit
 
  GEN574
  EPS8
  Epidermal growth factor receptor pathway substrate 8
  12
  Functional
  1
  Edit
 
  GEN081
  ERBB4
  v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
  2
  Rare Single Gene variant
  14
  Edit
 
  GEN678
  ERBIN
  erbb2 interacting protein
  5
  Rare single gene variant
  5
  Edit
 
  GEN404
  ERG
  v-ets erythroblastosis virus E26 oncogene homolog (avian)
  21
  Genetic association
  1
  Edit
 
  GEN838
  ERMN
  ermin
  2
  Rare single gene variant
  1
  Edit
 
  GEN082
  ESR1
  estrogen receptor 1
  6
  Syndromic
  9
  Edit
 
  GEN083
  ESR2
  estrogen receptor 2 (ER beta)
  14
  Syndromic
  7
  Edit
 
  GEN084
  ESRRB
  estrogen-related receptor beta
  14
  Genetic Association
  7
  Edit
 
  GEN658
  ETFB
  Electron-transfer-flavoprotein, beta polypeptide
  19
  Rare single gene variant
  2
  Edit
 
  GEN679
  EXOC3
  Exocyst complex component 3
  5
  Rare single gene variant
  1
  Edit
 
  GEN680
  EXOC5
  Exocyst complex component 5
  14
  Rare single gene variant
  2
  Edit
 
  GEN681
  EXOC6
  Exocyst complex component 6
  10
  Rare single gene variant
  1
  Edit
 
  GEN525
  EXOC6B
  Exocyst complex component 6B
  2
  Rare single gene variant
  3
  Edit
 
  GEN361
  EXT1
  Exostosin 1
  8
  Rare single gene variant
  4
  Edit
 
  GEN085
  F13A1
  coagulation factor XIII, A1 polypeptide
  6
  Functional
  5
  Edit
 
  GEN620
  FABP3
  Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)
  1
  Functional/rare single gene variant
  1
  Edit
 
  GEN086
  FABP5
  fatty acid binding protein 5 (psoriasis-associated)
  8
  Rare Single Gene variant, Genetic Association
  6
  Edit
 
  GEN087
  FABP7
  fatty acid binding protein 7, brain
  6
  Genetic Association
  7
  Edit
 
  GEN428
  Family with sequence similarity 135, member B
  8
  Genetic association
  2
  Edit
 
  GEN720
  FAM92B
  Family with sequence similarity 92, member B
  16
  Rare single gene variant
  2
  Edit
 
  GEN589
  FAN1
  FANCD2/FANCI-associated nuclease 1
  15
  Rare single gene variant
  1
  Edit
 
  GEN338
  FAT1
  FAT tumor suppressor homolog 1 (Drosophila)
  4
  Rare Single Gene variant
  4
  Edit
 
  GEN754
  FBN1
  Fibrillin 1
  15
  Rare single gene variant
  6
  Edit
 
  GEN315
  FBXO15
  F-box protein 15
  18
  Rare Single Gene variant
  2
  Edit
 
  GEN088
  FBXO33
  F-box protein 33
  14
  Genetic Association
  3
  Edit
 
  GEN089
  FBXO40
  F-box protein 40
  3
  Genetic Association
  4
  Edit
 
  GEN429
  FER
  Fer (fps/fes related) tyrosine kinase
  5
  Genetic association
  1
  Edit
 
  GEN090
  FEZF2
  FEZ family zinc finger 2
  3
  Genetic Association
  8
  Edit
 
  GEN585
  FGA
  Fibrinogen alpha chain
  4
  Genetic association
  1
  Edit
 
  GEN287
  FGD1
  FYVE, RhoGEF and PH domain containing 1
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN299
  FGFBP3
  fibroblast growth factor binding protein 3
  10
  Rare Single Gene variant
  1
  Edit
 
  GEN091
  FHIT
  fragile histidine triad gene
  3
  Genetic Association
  10
  Edit
 
  GEN092
  FLT1
  fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)
  13
  Functional
  3
  Edit
 
  GEN093
  FMR1
  fragile X mental retardation 1
  X
  Functional
  39
  Edit
 
  GEN413
  FOLH1
  Folate hydrolase (prostate-specific membrane antigen) 1
  11
  Functional
  2
  Edit
 
  GEN094
  FOXG1
  Forkhead box G1
  14
  Syndromic
  17
  Edit
 
  GEN095
  FOXP1
  forkhead box P1
  3
  Rare Single Gene variant
  24
  Edit
 
  GEN096
  FOXP2
  forkhead box P2
  7
  Rare single gene variant
  34
  Edit
 
  GEN097
  FRK
  fyn-related kinase
  6
  Genetic Association
  3
  Edit
 
  GEN098
  FRMPD4
  FERM and PDZ domain containing 4
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN624
  GABRA1
  Gamma-aminobutyric acid (GABA) A receptor, alpha 1
  5
  Functional
  5
  Edit
 
  GEN481
  GABRA3
  Gamma-aminobutyric acid (GABA) A receptor, alpha 3
  X
  Rare Single Gene variant
  1
  Edit
 
  GEN099
  GABRA4
  gamma-aminobutyric acid (GABA) A receptor, alpha 4
  4
  Genetic Association
  6
  Edit
 
  GEN827
  GABRA5
  gamma-aminobutyric acid type A receptor alpha5 subunit
  15
  Genetic association
  7
  Edit
 
  GEN100
  GABRB1
  gamma-aminobutyric acid (GABA) A receptor, beta 1
  4
  Genetic Association
  5
  Edit
 
  GEN101
  GABRB3
  gamma-aminobutyric acid (GABA) A receptor, beta 3
  15
  Genetic Association
  34
  Edit
 
  GEN480
  GABRQ
  Gamma-aminobutyric acid (GABA) A receptor, theta
  X
  Rare Single Gene variant
  1
  Edit
 
  GEN606
  GAD1
  Glutamate decarboxylase 1 (brain, 67kDa)
  2
  Functional
  5
  Edit
 
  GEN742
  Growth arrest and DNA-damage-inducible, beta
  19
  Functional
  4
  Edit
 
  GEN102
  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
  2
  Rare Single Gene variant
  4
  Edit
 
  GEN396
  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)
  2
  Genetic association
  4
  Edit
 
  GEN383
  GAN
  Gigaxonin
  16
  Rare single gene variant
  1
  Edit
 
  GEN414
  GAP43
  Growth associated protein 43
  3
  Functional
  1
  Edit
 
  GEN373
  GAS2
  Growth arrest-specific 2
  11
  Genetic association
  1
  Edit
 
  GEN617
  GATM
  Glycine amidinotransferase (L-arginine:glycine amidinotransferase) 
  15
  Syndromic
  2
  Edit
 
  GEN682
  GDA
  Guanine deaminase
  9
  Rare single gene variant
  1
  Edit
 
  GEN646
  GIGYF1
  GRB10 interacting GYF protein 1
  7
  Rare single gene variant
  2
  Edit
 
  GEN721
  GIGYF2
  GRB10 interacting GYF protein 2
  2
  Rare single gene variant
  6
  Edit
 
  GEN781
  GLIS1
  GLIS family zinc finger 1
  1
  Genetic association
  1
  Edit
 
  GEN103
  GLO1
  glyoxalase I
  6
  Genetic Association
  9
  Edit
 
  GEN104
  GLRA2
  glycine receptor, alpha 2
  X
  Rare Single Gene variant
  11
  Edit
 
  GEN347
  GNA14
  Guanine nucleotide binding protein (G protein), alpha 14
  9
  Rare Single Gene variant
  1
  Edit
 
  GEN105
  GNAS
  GNAS complex locus
  20
  Rare Single Gene variant, Genetic Association
  5
  Edit
 
  GEN304
  GNB1L
  guanine nucleotide binding protein (G protein), beta polypeptide 1-like
  22
  Rare Single Gene variant
  2
  Edit
 
  GEN849
  GPC4
  glypican 4
  X
  Rare single gene variant
  1
  Edit
 
  GEN106
  GPC6
  glypican 6
  13
  Rare Single Gene variant
  8
  Edit
 
  GEN535
  GPD2
  Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
  2
  Rare single gene variant
  4
  Edit
 
  GEN505
  GPHN
  Gephyrin
  14
  Rare single gene variant
  7
  Edit
 
  GEN107
  GPR139
  G protein-coupled receptor 139
  16
  Rare Single Gene variant
  5
  Edit
 
  GEN489
  GPR37
  G protein-coupled receptor 37 (endothelin receptor type B-like)
  7
  Rare single gene variant
  2
  Edit
 
  GEN709
  GPR85
  G protein-coupled receptor 85
  7
  Genetic association, functional
  4
  Edit
 
  GEN108
  GPX1
  glutathione peroxidase 1
  3
  Genetic Association
  5
  Edit
 
  GEN415
  GRID1
  Glutamate receptor, ionotropic, delta 1
  10
  Genetic association
  6
  Edit
 
  GEN283
  GRID2
  glutamate receptor, ionotropic, delta 2
  4
  Rare Single Gene variant
  7
  Edit
 
  GEN683
  Glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein
  7
  Rare single gene variant
  1
  Edit
 
  GEN109
  GRIK2
  glutamate receptor, ionotropic, kainate 2
  6
  Genetic Association
  16
  Edit
 
  GEN684
  GRIK3
  Glutamate receptor, ionotropic, kainate 3
  1
  Rare single gene variant
  1
  Edit
 
  GEN775
  GRIK4
  Glutamate receptor, ionotropic, kainate 4
  11
  Rare single gene variant
  2
  Edit
 
  GEN722
  GRIK5
  Glutamate receptor, ionotropic, kainate 5
  19
  Rare single gene variant
  6
  Edit
 
  GEN626
  GRIN1
  Glutamate receptor, ionotropic, N-methyl D-aspartate 1
  9
  Functional
  11
  Edit
 
  GEN110
  GRIN2A
  glutamate receptor, ionotropic, N-methyl D-aspartate 2A
  16
  Genetic Association
  26
  Edit
 
  GEN111
  GRIN2B
  glutamate receptor, inotropic, N-methyl D-apartate 2B
  12
  Genetic Association
  34
  Edit
 
  GEN112
  GRIP1
  glutamate receptor interacting protein 1
  12
  Rare Single Gene variant, Genetic Association
  12
  Edit
 
  GEN593
  GRM1
  Glutamate receptor, metabotropic 1
  6
  Rare single gene variant
  6
  Edit
 
  GEN559
  GRM4
  Glutamate receptor, metabotropic 4
  6
  Functional
  1
  Edit
 
  GEN355
  GRM5
  Glutamate receptor, metabotropic 5
  11
  Rare single gene variant
  5
  Edit
 
  GEN716
  GRM7
  Glutamate receptor, metabotropic 7
  3
  Genetic association
  13
  Edit
 
  GEN113
  GRM8
  glutamate receptor, metabotropic 8
  7
  Genetic Association
  7
  Edit
 
  GEN114
  GRPR
  Gastrin-releasing peptide receptor
  X
  Genetic Association
  7
  Edit
 
  GEN416
  GSK3B
  Glycogen synthase kinase 3 beta
  3
  Functional
  4
  Edit
 
  GEN387
  GSN
  Gelsolin
  9
  Rare single gene variant
  1
  Edit
 
  GEN115
  GSTM1
  glutathione S-transferase M1
  1
  Genetic Association
  3
  Edit
 
  GEN116
  GTF2I
  general transcription factor IIi
  7
  Rare Single Gene variant
  5
  Edit
 
  GEN400
  Guanylate cyclase 1, soluble, alpha 2
  11
  Genetic association
  1
  Edit
 
  GEN430
  HCFC1
  Host cell factor C1 (VP16-accessory protein)
  X
  Syndromic
  6
  Edit
 
  GEN611
  HCN1
  Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
  5
  Rare single gene variant
  5
  Edit
 
  GEN843
  HDAC3
  histone deacetylase 3
  5
  Rare single gene variant
  5
  Edit
 
  GEN117
  HDAC4
  histone deacetylase 4
  2
  Genetic Association
  11
  Edit
 
  GEN482
  HDAC6
  Histone deacetylase 6
  X
  Rare Single Gene variant
  2
  Edit
 
  GEN881
  HDC
  histidine decarboxylase
  15
  Functional
  6
  Edit
 
  GEN737
  HECW2
  HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
  2
  Rare single gene variant
  4
  Edit
 
  GEN118
  hepatic and glial cell adhesion molecule
  11
  Syndromic
  7
  Edit
 
  GEN431
  HERC2
  HECT and RLD domain containing E3 ubiquitin protein ligase 2
  15
  Rare single gene variant
  6
  Edit
 
  GEN870
  HIVEP3
  human immunodeficiency virus type I enhancer binding protein 3 
  1
  Rare single gene variant
  2
  Edit
 
  GEN119
  HLA-A
  major histocompatibility complex, class I, A
  6
  Genetic Association
  7
  Edit
 
  GEN795
  HLA-B
  Major histocompatibility complex, class I, B
  6
  Genetic association
  3
  Edit
 
  GEN120
  major histocompatibility complex, class II, DR beta 1
  6
  Genetic association
  5
  Edit
 
  GEN303
  HMGN1
  high mobility group nucleosome binding domain 1
  21
  Genetic Association
  1
  Edit
 
  GEN121
  heterogeneous nuclear ribonucleoprotein H2 (H')
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN356
  HOMER1
  Homer homolog 1 (Drosophila)
  5
  Rare single gene variant
  5
  Edit
 
  GEN122
  HOXA1
  homeobox A1
  7
  Genetic Association
  15
  Edit
 
  GEN123
  HOXB1
  homeobox B1
  17
  Genetic Association
  8
  Edit
 
  GEN124
  HRAS
  v-Ha-ras Harvey rat sarcoma viral oncogene homolog
  11
  Rare Single Gene variant
  10
  Edit
 
  GEN125
  HS3ST5
  heparan sulfate (glucosamine) 3-O-sulfotransferase 5
  6
  Genetic Association
  5
  Edit
 
  GEN126
  hydroxysteroid (11-beta) dehydrogenase 1
  1
  Syndromic
  8
  Edit
 
  GEN127
  HTR1B
  5-hydroxytryptamine (serotonin) receptor 1B
  6
  Genetic Association
  6
  Edit
 
  GEN128
  HTR2A
  5-hydroxytryptamine (serotonin) receptor 2A
  13
  Genetic Association
  9
  Edit
 
  GEN129
  HTR3A
  5-hydroxytryptamine (serotonin) receptor 3A
  11
  Functional
  7
  Edit
 
  GEN130
  HTR3C
  5-hydroxytryptamine (serotonin) receptor 3, family member C
  3
  Genetic Association
  5
  Edit
 
  GEN131
  HTR7
  5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)
  10
  Genetic Association
  5
  Edit
 
  GEN432
  HUWE1
  HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
  X
  Syndromic
  7
  Edit
 
  GEN514
  HYDIN
  HYDIN, axonemal central pair apparatus protein
  16
  Multigenic CNV
  1
  Edit
 
  GEN296
  ICA1
  islet cell autoantigen 1, 69kDa
  7
  Rare Single Gene variant
  4
  Edit
 
  GEN840
  IFNG
  interferon gamma
  12
  Functional
  13
  Edit
 
  GEN841
  IFNGR1
  interferon gamma receptor 1
  6
  Functional
  1
  Edit
 
  GEN685
  IL16
  Interleukin 16
  15
  Rare single gene variant
  1
  Edit
 
  GEN794
  IL17A
  Interleukin 17A
  6
  Functional
  1
  Edit
 
  GEN132
  IL1R2
  interleukin 1 receptor, type II
  2
  Rare Single Gene variant
  6
  Edit
 
  GEN133
  interleukin 1 receptor accessory protein-like 1
  X
  Rare single gene variant
  19
  Edit
 
  GEN302
  interleukin 1 receptor accessory protein-like 2
  X
  Genetic Association
  2
  Edit
 
  GEN804
  IL6
  interleukin 6
  7
  Functional
  5
  Edit
 
  GEN759
  ILF2
  Interleukin enhancer binding factor 2 
  1
  Rare single gene variant
  4
  Edit
 
  GEN134
  IMMP2L
  IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
  7
  Rare single gene variant
  10
  Edit
 
  GEN580
  INADL
  InaD-like (Drosophila)
  1
  Rare single gene variant
  1
  Edit
 
  GEN135
  INPP1
  inositol polyphosphate-1-phosphatase
  2
  Genetic Association
  4
  Edit
 
  GEN755
  INTS6
  Integrator complex subunit 6
  13
  Rare single gene variant
  4
  Edit
 
  GEN874
  IQGAP3
  IQ motif containing GTPase activating protein 3
  1
  Rare single gene variant
  2
  Edit
 
  GEN542
  IQSEC2
  IQ motif and Sec7 domain 2
  X
  Syndromic
  13
  Edit
 
  GEN763
  Interferon regulatory factor 2 binding protein-like 
  14
  Rare single gene variant
  3
  Edit
 
  GEN136
  ITGA4
  integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
  2
  Genetic Association
  5
  Edit
 
  GEN137
  ITGB3
  integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
  17
  Genetic Association
  12
  Edit
 
  GEN138
  ITGB7
  integrin, beta 7
  12
  Functional
  4
  Edit
 
  GEN880
  ITPR1
  inositol 1,4,5-trisphosphate receptor type 1
  3
  Rare single gene variant
  5
  Edit
 
  GEN790
  Janus kinase and microtubule interacting protein 1 
  4
  Functional
  6
  Edit
 
  GEN374
  JARID2
  Jumonji, AT rich interactive domain 2
  6
  Genetic association
  9
  Edit
 
  GEN139
  JMJD1C
  jumonji domain containing 1C
  10
  Rare single gene variant
  6
  Edit
 
  GEN530
  KANK1
  KN motif and ankyrin repeat domains 1
  9
  Rare single gene variant
  6
  Edit
 
  GEN764
  KAT2B
  K(lysine) acetyltransferase 2B 
  3
  Rare single gene variant
  5
  Edit
 
  GEN747
  KAT6A
  K(lysine) acetyltransferase 6A
  8
  Rare single gene variant
  7
  Edit
 
  GEN369
  Katanin p60 subunit A-like 2
  18
  Rare Single Gene variant
  7
  Edit
 
  GEN433
  KCND2
  Potassium voltage-gated channel, Shal-related subfamily, member 2
  7
  Rare single gene variant
  4
  Edit
 
  GEN140
  KCNJ10
  Potassium inwardly-rectifying channel, subfamily J, member 10
  1
  Genetic Association
  10
  Edit
 
  GEN686
  KCNJ12
  Potassium inwardly-rectifying channel, subfamily J, member 12
  17
  Rare single gene variant
  1
  Edit
 
  GEN687
  KCNJ15
  Potassium inwardly-rectifying channel, subfamily J, member 15
  21
  Rare single gene variant
  2
  Edit
 
  GEN614
  KCNJ2
  Potassium inwardly-rectifying channel, subfamily J, member 2 
  17
  Rare Single Gene variant
  1
  Edit
 
  GEN141
  KCNMA1
  potassium large conductance calcium-activated channel, subfamily M, alpha member 1
  10
  Rare single gene variant
  17
  Edit
 
  GEN553
  KCNQ2
  Potassium voltage-gated channel, KQT-like subfamily, member 2
  20
  Genetic association
  13
  Edit
 
  GEN536
  KCNQ3
  Potassium voltage-gated channel, KQT-like subfamily, member 3
  8
  Genetic association
  6
  Edit
 
  GEN434
  KCNT1
  Potassium channel, subfamily T, member 1
  9
  Rare single gene variant
  8
  Edit
 
  GEN363
  KCTD13
  Potassium channel tetramerisation domain containing 13
  16
  Rare single gene variant
  4
  Edit
 
  GEN819
  KDM4B
  lysine demethylase 4B
  19
  Rare single gene variant
  3
  Edit
 
  GEN647
  KDM5B
  Lysine (K)-specific demethylase 5B
  1
  Rare single gene variant
  4
  Edit
 
  GEN435
  KDM5C
  Lysine (K)-specific demethylase 5C
  X
  Syndromic
  18
  Edit
 
  GEN648
  KDM6B
  Lysine (K)-specific demethylase 6B
  17
  Rare single gene variant
  6
  Edit
 
  GEN294
  KH domain containing, RNA binding, signal transduction associated 2
  6
  Rare Single Gene variant
  2
  Edit
 
  GEN834
  KH RNA binding domain containing, signal transduction associated 3
  8
  Functional
  2
  Edit
 
  GEN142
  KIAA1586
  6
  Rare Single Gene variant
  3
  Edit
 
  GEN538
  KIAA2022
  X
  Rare single gene variant
  13
  Edit
 
  GEN688
  KIF13B
  Kinesin family member 13B
  8
  Rare single gene variant
  3
  Edit
 
  GEN389
  KIF5C
  Kinesin family member 5C
  2
  Rare single gene variant
  2
  Edit
 
  GEN789
  Kin of IRRE like 3 (Drosophila)
  11
  Rare single gene variant
  9
  Edit
 
  GEN522
  KIT
  V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  4
  Syndromic
  1
  Edit
 
  GEN388
  KLC2
  Kinesin light chain 2
  11
  Rare single gene variant
  2
  Edit
 
  GEN571
  KMO
  Kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
  1
  Functional
  1
  Edit
 
  GEN700
  KMT2A
  Lysine (K)-specific methyltransferase 2A
  11
  Syndromic
  11
  Edit
 
  GEN659
  KMT2C
  Lysine (K)-specific methyltransferase 2C 
  7
  Rare single gene variant
  8
  Edit
 
  GEN636
  KMT2E
  Lysine (K)-specific methyltransferase 2E
  7
  Rare single gene variant
  3
  Edit
 
  GEN336
  KMT5B
  lysine methyltransferase 5B
  11
  Rare Single Gene variant
  6
  Edit
 
  GEN586
  KPTN
  Kaptin (actin binding protein)
  19
  Rare single gene variant
  2
  Edit
 
  GEN779
  KRR1
  KRR1, small subunit (SSU) processome component, homolog (yeast)
  12
  Genetic association
  1
  Edit
 
  GEN403
  LAMA1
  Laminin, alpha 1
  18
  Genetic association
  4
  Edit
 
  GEN143
  LAMB1
  laminin, beta 1
  7
  Genetic Association
  4
  Edit
 
  GEN144
  LAMC3
  laminin, gamma 3
  9
  Rare Single Gene variant
  8
  Edit
 
  GEN496
  LEP
  Leptin
  7
  Rare single gene variant
  1
  Edit
 
  GEN632
  LIN7B
  Lin-7 homolog B (C. elegans)
  19
  Multigenic CNV/rare single gene variant
  1
  Edit
 
  GEN272
  LMX1B
  LIM homeobox transcription factor 1, beta
  9
  Genetic association/Functional
  1
  Edit
 
  GEN689
  LPL
  Lipoprotein lipase
  8
  Rare single gene variant
  1
  Edit
 
  GEN802
  LRBA
  LPS-responsive vesicle trafficking, beach and anchor containing 
  4
  Rare single gene variant
  3
  Edit
 
  GEN145
  LRFN5
  leucine rich repeat and fibronectin type III domain containing 5
  14
  Genetic Association
  6
  Edit
 
  GEN362
  LRP2
  Low density lipoprotein receptor-related protein 2
  2
  Rare single gene variant
  9
  Edit
 
  GEN690
  LRP2BP
  LRP2 binding protein
  4
  Rare single gene variant
  1
  Edit
 
  GEN436
  LRPPRC
  Leucine-rich pentatricopeptide repeat containing
  2
  Functional
  3
  Edit
 
  GEN146
  LRRC1
  leucine rich repeat containing 1
  6
  Genetic Association
  4
  Edit
 
  GEN417
  LRRC7
  Leucine rich repeat containing 7
  1
  Functional
  2
  Edit
 
  GEN730
  LZTR1
  Leucine-zipper-like transcription regulator 1
  22
  Rare single gene variant
  2
  Edit
 
  GEN147
  LZTS2
  leucine zipper, putative tumor suppressor 2
  10
  Genetic Association
  4
  Edit
 
  GEN148
  MACRO domain containing 2
  20
  Genetic Association
  16
  Edit
 
  GEN405
  MAGED1
  Melanoma antigen family D, 1
  X
  Functional
  1
  Edit
 
  GEN578
  MAGEL2
  MAGE-like 2
  15
  Syndromic
  7
  Edit
 
  GEN668
  MAL
  mal, T-cell differentiation protein
  2
  Functional
  2
  Edit
 
  GEN149
  MAOA
  monoamine oxidase A
  X
  Genetic Association
  13
  Edit
 
  GEN524
  MAOB
  Monoamine oxidase B
  X
  Multigenic CNV
  3
  Edit
 
  GEN150
  MAP2
  microtubule-associated protein 2
  2
  Rare Single Gene variant
  5
  Edit
 
  GEN418
  MAPK1
  Mitogen-activated protein kinase 1
  22
  Functional
  2
  Edit
 
  GEN691
  MAPK12
  Mitogen-activated protein kinase 12
  22
  Rare single gene variant
  1
  Edit
 
  GEN284
  MAPK3
  mitogen-activated protein kinase 3
  16
  Rare Single Gene variant
  3
  Edit
 
  GEN419
  Mitogen-activated protein kinase 8 interacting protein 2
  22
  Functional
  1
  Edit
 
  GEN151
  MARK1
  MAP/microtubule affinity-regulating kinase 1
  1
  Genetic association/Functional
  10
  Edit
 
  GEN152
  MBD1
  methyl-CpG binding domain protein 1
  18
  Rare Single Gene variant
  7
  Edit
 
  GEN153
  MBD3
  methyl-CpG binding domain protein 3
  19
  Rare Single Gene variant, Genetic Association
  4
  Edit
 
  GEN154
  MBD4
  methyl-CpG binding domain protein 4
  3
  Rare Single Gene variant, Genetic Association
  6
  Edit
 
  GEN345
  MBD5
  Methyl-CpG binding domain protein 5
  2
  Rare single gene variant
  25
  Edit
 
  GEN437
  MBD6
  Methyl-CpG binding domain protein 6
  12
  Rare single gene variant
  1
  Edit
 
  GEN846
  MBOAT7
  membrane bound O-acyltransferase domain containing 7
  19
  Rare single gene variant
  2
  Edit
 
  GEN551
  MC4R
  Melanocortin 4 receptor
  18
  Functional
  2
  Edit
 
  GEN325
  MCC
  mutated in colorectal cancers
  5
  Rare single gene variant
  4
  Edit
 
  GEN811
  MCM4
  minichromosome maintenance complex component 4 
  8
  Rare single gene variant
  2
  Edit
 
  GEN155
  MCPH1
  microcephalin 1
  8
  Rare Single Gene variant
  13
  Edit
 
  GEN156
  MDGA2
  MAM domain containing glycosylphosphatidylinositol anchor 2
  14
  Genetic Association
  7
  Edit
 
  GEN157
  MECP2
  Methyl CpG binding protein 2
  X
  Syndromic
  58
  Edit
 
  GEN158
  MED12
  mediator complex subunit 12
  X
  Genetic Association
  18
  Edit
 
  GEN649
  MED13L
  Mediator complex subunit 13-like
  12
  Rare single gene variant
  13
  Edit
 
  GEN159
  MEF2C
  myocyte enhancer factor 2C
  5
  Rare Single Gene variant
  24
  Edit
 
  GEN160
  MET
  met proto-oncogene (hepatocyte growth factor receptor)
  7
  Genetic Association
  33
  Edit
 
  GEN765
  MFRP
  Membrane frizzled-related protein 
  11
  Rare single gene variant
  4
  Edit
 
  GEN660
  MIB1
  Mindbomb E3 ubiquitin protein ligase 1
  18
  Rare single gene variant
  3
  Edit
 
  GEN161
  MKL2
  MKL/myocardin-like 2
  16
  Genetic Association
  8
  Edit
 
  GEN780
  MNT
  MAX network transcriptional repressor
  17
  Genetic association
  1
  Edit
 
  GEN746
  MOCOS
  Molybdenum cofactor sulfurase
  18
  Rare single gene variant
  2
  Edit
 
  GEN692
  MPP6
  Membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
  7
  Rare single gene variant
  3
  Edit
 
  GEN379
  MSN
  Moesin
  X
  Functional
  1
  Edit
 
  GEN582
  Moesin pseudogene 1, antisense
  5
  Genetic Association
  10
  Edit
 
  GEN335
  MSR1
  macrophage scavenger receptor 1
  8
  Rare Single Gene variant
  2
  Edit
 
  GEN162
  MTF1
  metal-regulatory transcription factor 1
  1
  Genetic Association
  4
  Edit
 
  GEN163
  MTHFR
  methylenetetrahydrofolate reductase (NAD(P)H)
  1
  Genetic Association
  14
  Edit
 
  GEN785
  MTOR
  Mechanistic target of rapamycin (serine/threonine kinase)
  1
  Rare single gene variant
  9
  Edit
 
  GEN529
  MTR
  5-methyltetrahydrofolate-homocysteine methyltransferase
  1
  Functional
  5
  Edit
 
  GEN438
  MTX2
  Metaxin 2
  2
  Functional
  1
  Edit
 
  GEN502
  MYH4
  Myosin, heavy chain 4, skeletal muscle
  17
  Rare single gene variant
  2
  Edit
 
  GEN164
  MYO16
  myosin XVI
  13
  Genetic Association
  6
  Edit
 
  GEN165
  MYO1A
  myosin IA
  12
  Rare Single Gene variant
  7
  Edit
 
  GEN661
  MYO9B
  Myosin IXB
  19
  Rare single gene variant
  2
  Edit
 
  GEN693
  MYOZ1
  Myozenin 1
  10
  Rare single gene variant
  1
  Edit
 
  GEN533
  MYT1L
  Myelin transcription factor 1-like
  2
  Multigenic CNV
  12
  Edit
 
  GEN662
  NAA15
  N(alpha)-acetyltransferase 15, NatA auxiliary subunit 
  4
  Rare single gene variant
  4
  Edit
 
  GEN777
  N-acetylated alpha-linked acidic dipeptidase-like 2 
  3
  Genetic association
  1
  Edit
 
  GEN868
  NACC1
  nucleus accumbens associated 1
  19
  Rare single gene variant
  3
  Edit
 
  GEN814
  NAV2
  neuron navigator 2
  11
  Rare single gene variant
  6
  Edit
 
  GEN166
  NBEA
  neurobeachin
  13
  Rare single gene variant
  7
  Edit
 
  GEN650
  NCKAP1
  NCK-associated protein 1
  2
  Rare single gene variant
  6
  Edit
 
  GEN492
  NCKAP5
  NCK-associated protein 5
  2
  Rare single gene variant
  1
  Edit
 
  GEN350
  NCK-associated protein 5-like
  12
  Rare single gene variant
  2
  Edit
 
  GEN855
  NCOR1
  nuclear receptor corepressor 1
  17
  Rare single gene variant
  3
  Edit
 
  GEN167
  NDNL2
  necdin-like 2
  15
  Functional
  3
  Edit
 
  GEN168
  NDUFA5
  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
  7
  Genetic Association
  3
  Edit
 
  GEN439
  NEFL
  Neurofilament, light polypeptide
  8
  Genetic association/functional
  1
  Edit
 
  GEN440
  NELL1
  NEL-like 1 (chicken)
  11
  Genetic association
  2
  Edit
 
  GEN782
  NEO1
  Neogenin 1
  15
  Multigenic CNV, rare single gene variant
  1
  Edit
 
  GEN169
  NF1
  neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
  17
  Rare Single Gene variant, Genetic Association
  21
  Edit
 
  GEN290
  NFIA
  nuclear factor I/A
  1
  Rare Single Gene variant
  8
  Edit
 
  GEN805
  NFIX
  nuclear factor I/X (CCAAT-binding transcription factor)
  19
  Syndromic
  4
  Edit
 
  GEN766
  NINL
  Ninein-like 
  20
  Rare single gene variant
  3
  Edit
 
  GEN318
  NIPA1
  non imprinted in Prader-Willi/Angelman syndrome 1
  15
  Multigenic CNV
  3
  Edit
 
  GEN319
  NIPA2
  non imprinted in Prader-Willi/Angelman syndrome 2
  15
  Multigenic CNV
  2
  Edit
 
  GEN278
  NIPBL
  Nipped-B homolog (Drosophila)
  5
  Syndromic
  6
  Edit
 
  GEN170
  NLGN1
  neuroligin 1
  3
  Genetic Association
  15
  Edit
 
  GEN627
  NLGN2
  Neuroligin 2
  17
  Functional
  5
  Edit
 
  GEN171
  NLGN3
  neuroligin 3
  X
  Rare Single Gene variant
  31
  Edit
 
  GEN172
  NLGN4X
  neuroligin 4, X-linked
  X
  Rare Single Gene variant
  27
  Edit
 
  GEN173
  NLGN4Y
  neuroligin 4, Y-linked
  Y
  Genetic Association
  3
  Edit
 
  GEN694
  NOS1
  Nitric oxide synthase 1 (neuronal)
  12
  Rare single gene variant
  2
  Edit
 
  GEN174
  NOS1AP
  nitric oxide synthase 1 (neuronal) adaptor protein
  1
  Rare single Gene variant
  6
  Edit
 
  GEN175
  NOS2A
  nitric oxide synthase 2A (inducible, hepatocytes)
  17
  Genetic Association
  6
  Edit
 
  GEN176
  NPAS2
  neuronal PAS domain protein 2
  2
  Genetic Association
  4
  Edit
 
  GEN817
  NR2F1
  nuclear receptor subfamily 2 group F member 1
  5
  Rare single gene variant
  6
  Edit
 
  GEN663
  NR3C2
  Nuclear receptor subfamily 3, group C, member 2
  4
  Rare single gene variant
  3
  Edit
 
  GEN177
  NRCAM
  neuronal cell adhesion molecule
  7
  Genetic Association
  5
  Edit
 
  GEN628
  NRG1
  Neuregulin 1
  8
  Functional
  4
  Edit
 
  GEN178
  NRP2
  neuropilin 2
  2
  Genetic Association
  7
  Edit
 
  GEN179
  NRXN1
  neurexin 1
  2
  Rare Single Gene variant
  66
  Edit
 
  GEN271
  NRXN2
  neurexin 2
  11
  Rare Single Gene variant
  5
  Edit
 
  GEN305
  NRXN3
  neurexin 3
  14
  Rare Single Gene variant
  14
  Edit
 
  GEN279
  NSD1
  nuclear receptor binding SET domain protein 1
  5
  Syndromic
  9
  Edit
 
  GEN180
  NTNG1
  netrin G1
  1
  Syndromic
  8
  Edit
 
  GEN181
  NTRK1
  neurotrophic tyrosine kinase, receptor, type 1
  1
  Rare Single Gene variant
  8
  Edit
 
  GEN182
  NTRK3
  neurotrophic tyrosine kinase, receptor, type 3
  15
  Rare Single Gene variant, Genetic Association
  13
  Edit
 
  GEN756
  NUAK1
  NUAK family, SNF1-like kinase, 1
  12
  Rare single gene variant
  5
  Edit
 
  GEN812
  NUP133
  nucleoporin 133kDa
  1
  Rare single gene variant
  4
  Edit
 
  GEN483
  NXF5
  Nuclear RNA export factor 5
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN297
  NXPH1
  neurexophilin 1
  7
  Rare Single Gene variant
  4
  Edit
 
  GEN818
  OCRL
  oculocerebrorenal syndrome of Lowe
  X
  Syndromic
  4
  Edit
 
  GEN183
  ODF3L2
  outer dense fiber of sperm tails 3-like 2
  19
  Rare Single Gene variant
  1
  Edit
 
  GEN547
  OGT
  O-linked N-acetylglucosamine (GlcNAc) transferase
  X
  Functional
  4
  Edit
 
  GEN184
  OPHN1
  oligophrenin 1
  X
  Rare Single Gene variant
  9
  Edit
 
  GEN185
  OPRM1
  opioid receptor, mu 1
  6
  Functional
  4
  Edit
 
  GEN186
  OR1C1
  olfactory receptor, family 1, subfamily C, member 1
  1
  Rare Single Gene variant
  2
  Edit
 
  GEN776
  OR2M4
  Olfactory receptor, family 2, subfamily M, member 4
  1
  Genetic association
  1
  Edit
 
  GEN800
  OR2T10
  olfactory receptor family 2 subfamily T member 10 
  1
  Rare single gene variant
  3
  Edit
 
  GEN767
  OR52M1
  Olfactory receptor, family 52, subfamily M, member 1 
  11
  Rare single gene variant
  2
  Edit
 
  GEN376
  OTX1
  Orthodenticle homeobox 1
  2
  Genetic association
  3
  Edit
 
  GEN828
  OXT
  oxytocin/neurophysin I prepropeptide
  20
  Genetic association
  4
  Edit
 
  GEN187
  OXTR
  oxytocin receptor
  3
  Genetic Association
  38
  Edit
 
  GEN629
  P2RX4
  Purinergic receptor P2X, ligand-gated ion channel, 4
  12
  Functional
  1
  Edit
 
  GEN768
  P2RX5
  Purinergic receptor P2X, ligand gated ion channel, 5
  17
  Rare single gene variant
  2
  Edit
 
  GEN723
  P4HA2
  Prolyl 4-hydroxylase, alpha polypeptide II
  5
  Rare single gene variant
  4
  Edit
 
  GEN803
  PACS1
  phosphofurin acidic cluster sorting protein 1
  11
  Syndromic
  3
  Edit
 
  GEN630
  Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  17
  Functional
  2
  Edit
 
  GEN527
  PAH
  Phenylalanine hydroxylase
  12
  Rare single gene variant
  2
  Edit
 
  GEN391
  PARD3B
  Par-3 partitioning defective 3 homolog B (C. elegans)
  2
  Genetic association
  6
  Edit
 
  GEN188
  PARK2
  Parkinson disease (autosomal recessive, juvenile) 2, parkin
  6
  Genetic Association
  14
  Edit
 
  GEN667
  PAX5
  Paired box 5
  9
  Rare Single Gene variant
  3
  Edit
 
  GEN743
  PAX6
  Paired box 6
  11
  Multigenic CNV
  6
  Edit
 
  GEN857
  PCCA
  propionyl-CoA carboxylase alpha subunit
  13
  Syndromic
  9
  Edit
 
  GEN858
  PCCB
  propionyl-CoA carboxylase beta subunit
  3
  Syndromic
  7
  Edit
 
  GEN189
  PCDH10
  protocadherin 10
  4
  Rare Single Gene variant
  7
  Edit
 
  GEN399
  PCDH15
  Protocadherin-related 15
  10
  Genetic association
  4
  Edit
 
  GEN190
  PCDH19
  protocadherin 19
  X
  Syndromic
  17
  Edit
 
  GEN324
  PCDH8
  protocadherin 8
  13
  Rare Single Gene variant
  1
  Edit
 
  GEN191
  PCDH9
  protocadherin 9
  13
  Rare Single Gene variant
  6
  Edit
 
  GEN441
  PCDHA1
  Protocadherin alpha 1
  5
  Rare single gene variant
  3
  Edit
 
  GEN450
  Protocadherin alpha 10
  5
  Rare single gene variant
  3
  Edit
 
  GEN451
  Protocadherin alpha 11
  5
  Rare single gene variant
  4
  Edit
 
  GEN452
  Protocadherin alpha 12
  5
  Rare single gene variant
  3
  Edit
 
  GEN453
  Protocadherin alpha 13
  5
  Rare single gene variant
  4
  Edit
 
  GEN442
  PCDHA2
  Protocadherin alpha 2
  5
  Rare single gene variant
  4
  Edit
 
  GEN443
  PCDHA3
  Protocadherin alpha 3
  5
  Rare single gene variant
  3
  Edit
 
  GEN444
  PCDHA4
  Protocadherin alpha 4
  5
  Rare single gene variant
  3
  Edit
 
  GEN445
  PCDHA5
  Protocadherin alpha 5
  5
  Rare single gene variant
  5
  Edit
 
  GEN446
  PCDHA6
  Protocadherin alpha 6
  5
  Rare single gene variant
  3
  Edit
 
  GEN447
  PCDHA7
  Protocadherin alpha 7
  5
  Rare single gene variant
  3
  Edit
 
  GEN448
  PCDHA8
  Protocadherin alpha 8
  5
  Rare single gene variant
  3
  Edit
 
  GEN449
  PCDHA9
  Protocadherin alpha 9
  5
  Rare single gene variant
  4
  Edit
 
  GEN454
  Protocadherin alpha subfamily C, 1
  5
  Genetic association
  2
  Edit
 
  GEN455
  Protocadherin alpha subfamily C, 2
  5
  Genetic association
  3
  Edit
 
  GEN342
  protocadherin gamma subfamily A, 11
  5
  Rare Single Gene variant
  1
  Edit
 
  GEN309
  PDE1C
  phosphodiesterase 1C, calmodulin-dependent 70kDa
  7
  Rare Single Gene variant
  1
  Edit
 
  GEN311
  PDE4A
  phosphodiesterase 4A, cAMP-specific
  19
  Functional
  2
  Edit
 
  GEN312
  PDE4B
  phosphodiesterase 4B, cAMP-specific
  1
  Functional
  4
  Edit
 
  GEN192
  PDZD4
  PDZ domain containing 4
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN276
  PECR
  peroxisomal trans-2-enoyl-CoA reductase
  2
  Rare Single Gene variant
  2
  Edit
 
  GEN193
  PER1
  period homolog 1 (Drosophila)
  17
  Genetic Association
  5
  Edit
 
  GEN326
  PEX7
  peroxisomal biogenesis factor 7
  6
  Genetic Association
  3
  Edit
 
  GEN859
  peptidoglycan recognition protein 2
  19
  Rare single gene variant
  2
  Edit
 
  GEN651
  PHF2
  PHD finger protein 2
  9
  Rare single gene variant
  4
  Edit
 
  GEN456
  PHF8
  PHD finger protein 8
  X
  Syndromic
  7
  Edit
 
  GEN856
  PHIP
  pleckstrin homology domain interacting protein
  6
  Rare single gene variant
  5
  Edit
 
  GEN738
  PHRF1
  PHD and ring finger domains 1 
  11
  Rare single gene variant
  4
  Edit
 
  GEN194
  PIK3CG
  phosphoinositide-3-kinase, catalytic, gamma polypeptide
  7
  Genetic Association
  4
  Edit
 
  GEN552
  PIK3R2
  Phosphoinositide-3-kinase, regulatory subunit 2 (beta)
  19
  Syndromic
  3
  Edit
 
  GEN195
  PINX1
  PIN2/TERF1 interacting, telomerase inhibitor 1
  8
  Rare Single Gene variant
  5
  Edit
 
  GEN196
  PITX1
  paired-like homeodomain 1
  5
  Genetic Association
  6
  Edit
 
  GEN371
  PLAUR
  Plasminogen activator, urokinase receptor
  19
  Genetic association
  1
  Edit
 
  GEN316
  PLCB1
  phospholipase C, beta 1 (phosphoinositide-specific)
  20
  Rare Single Gene variant
  7
  Edit
 
  GEN197
  PLCD1
  phospholipase C, delta 1
  3
  Rare Single Gene variant
  9
  Edit
 
  GEN198
  PLN
  phospholamban
  6
  Rare Single Gene variant
  4
  Edit
 
  GEN497
  PLXNA4
  Plexin A4
  7
  Functional
  3
  Edit
 
  GEN872
  PLXNB1
  plexin B1
  3
  Rare single gene variant
  3
  Edit
 
  GEN368
  POGZ
  Pogo transposable element with ZNF domain
  1
  Rare single gene variant
  20
  Edit
 
  GEN528
  Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
  1
  Syndromic
  2
  Edit
 
  GEN199
  PON1
  paraoxonase 1
  7
  Genetic Association
  5
  Edit
 
  GEN495
  POT1
  Protection of telomeres 1 homolog (S. pombe)
  7
  Rare single gene variant
  1
  Edit
 
  GEN806
  POU3F2
  POU class 3 homeobox 2
  6
  Functional
  3
  Edit
 
  GEN512
  PPFIA1
  Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
  11
  Rare single gene variant
  2
  Edit
 
  GEN359
  Protein phosphatase 1, regulatory (inhibitor) subunit 1B
  17
  Genetic association
  1
  Edit
 
  GEN200
  protein phosphatase 1, regulatory (inhibitor) subunit 3F
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN810
  protein phosphatase 2 regulatory subunit A, beta
  11
  Rare single gene variant
  3
  Edit
 
  GEN786
  Protein phosphatase 2, regulatory subunit B', delta
  6
  Rare single gene variant
  6
  Edit
 
  GEN791
  PREX1
  Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 
  20
  Genetic association/Rare single gene variant/Functional
  1
  Edit
 
  GEN588
  Prickle homolog 1 (Drosophila)
  12
  Syndromic
  4
  Edit
 
  GEN545
  Prickle homolog 2 (Drosophila)
  3
  Rare single gene variant/multigenic CNV
  3
  Edit
 
  GEN201
  PRKCB
  protein kinase C, beta
  16
  Genetic Association
  4
  Edit
 
  GEN457
  PRKD1
  Protein kinase D1
  14
  Syndromic
  4
  Edit
 
  GEN839
  PRKDC
  protein kinase, DNA-activated, catalytic polypeptide
  8
  Syndromic
  3
  Edit
 
  GEN639
  PRODH
  Proline dehydrogenase (oxidase) 1
  22
  Syndromic
  5
  Edit
 
  GEN458
  PRSS38
  Protease, serine, 38
  1
  Genetic association
  3
  Edit
 
  GEN310
  PRUNE2
  prune homolog 2 (Drosophila)
  9
  Rare Single Gene variant
  6
  Edit
 
  GEN329
  PSD3
  pleckstrin and Sec7 domain containing 3
  8
  Rare Single Gene variant
  4
  Edit
 
  GEN202
  PSMD10
  proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
  X
  Rare Single Gene variant
  6
  Edit
 
  GEN867
  PSMD12
  proteasome 26S subunit, non-ATPase 12
  17
  Syndromic
  1
  Edit
 
  GEN848
  PTBP2
  polypyrimidine tract binding protein 2
  1
  Rare single gene variant
  3
  Edit
 
  GEN203
  PTCHD1
  patched domain containing 1
  X
  Rare Single Gene variant
  11
  Edit
 
  GEN204
  PTEN
  phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
  10
  Syndromic
  41
  Edit
 
  GEN540
  PTGER3
  Prostaglandin E receptor 3 (subtype EP3)
  1
  Rare single gene variant
  1
  Edit
 
  GEN205
  PTGS2
  prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)
  1
  Genetic Association
  5
  Edit
 
  GEN769
  PTK7
  Protein tyrosine kinase 7 (inactive) 
  6
  Rare single gene variant
  4
  Edit
 
  GEN277
  PTPN11
  protein tyrosine phosphatase, non-receptor type 11
  12
  Syndromic
  9
  Edit
 
  GEN605
  PTPRB
  Protein Tyrosine Phosphatase, Receptor Type, B
  12
  Genetic association
  2
  Edit
 
  GEN206
  PTPRC
  protein tyrosine phosphatase, receptor type, C
  1
  Genetic Association
  8
  Edit
 
  GEN314
  PTPRT
  protein tyrosine phosphatase, receptor type, T
  20
  Rare Single Gene variant
  8
  Edit
 
  GEN734
  PVALB
  Parvalbumin
  22
  Functional
  1
  Edit
 
  GEN534
  PXDN
  Peroxidasin homolog (Drosophila)
  2
  Multigenic CNV
  3
  Edit
 
  GEN724
  PYHIN1
  Pyrin and HIN domain family, member 1
  1
  Rare single gene variant
  4
  Edit
 
  GEN370
  RAB11 family interacting protein 5
  2
  Rare single gene variant
  4
  Edit
 
  GEN511
  RAB19
  RAB19, member RAS oncogene family
  7
  Rare single gene variant
  1
  Edit
 
  GEN807
  RAB2A
  RAB2A, member RAS oncogene family
  8
  Rare single gene variant
  6
  Edit
 
  GEN207
  RAB39B
  RAB39B, member RAS oncogene family
  X
  Rare Single Gene variant
  7
  Edit
 
  GEN725
  RAB43
  RAB43, member RAS oncogene family
  3
  Rare single gene variant
  2
  Edit
 
  GEN208
  RAI1
  retinoic acid induced 1
  17
  Rare Single Gene variant
  15
  Edit
 
  GEN760
  RAN binding protein 17
  5
  Rare single gene variant
  3
  Edit
 
  GEN209
  Rap guanine nucleotide exchange factor (GEF) 4
  2
  Rare Single Gene variant, Genetic Association
  14
  Edit
 
  GEN560
  RASD1
  RAS, dexamethasone-induced 1
  17
  Functional
  1
  Edit
 
  GEN394
  RASSF5
  Ras association (RalGDS/AF-6) domain family member 5
  1
  Genetic association
  2
  Edit
 
  GEN210
  RB1CC1
  RB1-inducible coiled-coil 1
  8
  Rare Single Gene variant
  3
  Edit
 
  GEN001
  RBFOX1
  RNA binding protein, fox-1 homolog (C. elegans) 1
  16
  Genetic Association
  31
  Edit
 
  GEN726
  RBM27
  RNA binding motif protein 27
  5
  Rare single gene variant
  2
  Edit
 
  GEN519
  RBM8A
  RNA binding motif protein 8A
  1
  Multigenic CNV
  5
  Edit
 
  GEN211
  RBMS3
  RNA binding motif, single stranded interacting protein 3
  3
  Rare Single Gene variant
  2
  Edit
 
  GEN212
  REEP3
  receptor accessory protein 3
  10
  Rare single gene variant
  3
  Edit
 
  GEN213
  RELN
  Reelin
  7
  Genetic Association
  40
  Edit
 
  GEN491
  RERE
  Arginine-glutamic acid dipeptide (RE) repeats
  1
  Rare single gene variant
  4
  Edit
 
  GEN214
  RFWD2
  ring finger and WD repeat domain 2
  1
  Genetic Association
  9
  Edit
 
  GEN215
  RGS7
  regulator of G-protein signaling 7
  1
  Rare Single Gene variant
  6
  Edit
 
  GEN216
  RHOXF1
  Rhox homeobox family, member 1
  X
  Genetic Association
  3
  Edit
 
  GEN637
  RIMS1
  Regulating synaptic membrane exocytosis 1
  6
  Rare single gene variant
  3
  Edit
 
  GEN217
  RIMS3
  regulating synaptic membrane exocytosis 3
  1
  Rare single gene variant
  4
  Edit
 
  GEN815
  RIT2
  Ras-like without CAAX 2
  18
  Genetic association
  3
  Edit
 
  GEN708
  RLIM
  Ring finger protein, LIM domain interacting
  X
  Rare single gene variant
  2
  Edit
 
  GEN774
  RNF135
  Ring finger protein 135 
  17
  Syndromic
  2
  Edit
 
  GEN521
  RNPS1
  RNA binding protein S1, serine-rich domain
  16
  Multigenic CNV
  1
  Edit
 
  GEN218
  ROBO1
  roundabout, axon guidance receptor, homolog 1 (Drosophila)
  3
  Functional
  9
  Edit
 
  GEN493
  ROBO2
  Roundabout, axon guidance receptor, homolog 2 (Drosophila)
  3
  Functional
  8
  Edit
 
  GEN219
  RORA
  RAR-related orphan receptor A
  15
  Functional
  15
  Edit
 
  GEN220
  RPL10
  ribosomal protein L10
  X
  Rare single gene variant
  11
  Edit
 
  GEN375
  RPP25
  Ribonuclease P/MRP 25kDa subunit
  15
  Functional
  1
  Edit
 
  GEN221
  ribosomal protein S6 kinase, 90kDa, polypeptide 2
  6
  Rare Single Gene variant
  3
  Edit
 
  GEN591
  Ribosomal protein S6 kinase, 90kDa, polypeptide 3
  X
  Syndromic
  9
  Edit
 
  GEN503
  SAE1
  SUMO1 activating enzyme subunit 1
  19
  Rare single gene variant
  3
  Edit
 
  GEN346
  SATB2
  SATB homeobox 2
  2
  Syndromic
  15
  Edit
 
  GEN473
  SBF1
  SET binding factor 1
  22
  Rare Single Gene variant
  6
  Edit
 
  GEN222
  SCFD2
  sec1 family domain containing 2
  4
  Rare Single Gene variant
  2
  Edit
 
  GEN223
  SCN1A
  sodium channel, voltage-gated, type I, alpha subunit
  2
  Rare Single Gene variant
  38
  Edit
 
  GEN224
  SCN2A
  sodium channel, voltage-gated, type II, alpha subunit
  2
  Rare Single Gene variant
  40
  Edit
 
  GEN739
  SCN4A
  Sodium channel, voltage gated, type IV alpha subunit 
  17
  Rare single gene variant
  2
  Edit
 
  GEN695
  SCN5A
  Sodium channel, voltage-gated, type V, alpha subunit
  3
  Rare single gene variant
  2
  Edit
 
  GEN485
  SCN7A
  Sodium channel, voltage-gated, type VII, alpha subunit
  2
  Rare Single Gene variant
  3
  Edit
 
  GEN327
  SCN8A
  sodium channel, voltage gated, type VIII, alpha subunit
  12
  Rare single gene variant
  18
  Edit
 
  GEN861
  SCN9A
  sodium voltage-gated channel alpha subunit 9
  2
  Rare single gene variant
  4
  Edit
 
  GEN225
  SDC2
  syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )
  8
  Rare Single Gene variant
  3
  Edit
 
  GEN459
  SDK1
  Sidekick cell adhesion molecule 1
  7
  Genetic association
  4
  Edit
 
  GEN226
  SEMA5A
  sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
  5
  Functional
  15
  Edit
 
  GEN372
  Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
  7
  Genetic association
  2
  Edit
 
  GEN640
  SETBP1
  SET binding protein 1
  18
  Rare single gene variant
  9
  Edit
 
  GEN474
  SETD2
  SET domain containing 2
  3
  Rare Single Gene variant
  9
  Edit
 
  GEN607
  SETD5
  SET domain containing 5
  3
  Rare Single Gene variant
  15
  Edit
 
  GEN460
  SETDB1
  SET domain, bifurcated 1
  1
  Rare single gene variant
  2
  Edit
 
  GEN461
  SETDB2
  SET domain, bifurcated 2
  13
  Syndromic
  2
  Edit
 
  GEN227
  SEZ6L2
  SEZ6L2 seizure related 6 homolog (mouse)-like 2
  16
  Rare Single Gene variant
  5
  Edit
 
  GEN601
  SGSH
  N-sulfoglucosamine sulfohydrolase
  17
  Syndromic
  4
  Edit
 
  GEN475
  SGSM3
  Small G protein signaling modulator 3
  22
  Rare Single Gene variant
  3
  Edit
 
  GEN228
  SH3-domain kinase binding protein 1
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN340
  SHANK1
  SH3 and multiple ankyrin repeat domains 1
  19
  Rare Single Gene variant
  5
  Edit
 
  GEN229
  SHANK2
  SH3 and multiple ankyrin repeat domains 2
  11
  Rare Single Gene variant
  21
  Edit
 
  GEN230
  SHANK3
  SH3 and multiple ankyrin repeat domains 3
  22
  Rare Single Gene variant
  56
  Edit
 
  GEN821
  SHOX
  short stature homeobox
  X,Y
  Rare single gene variant
  2
  Edit
 
  GEN712
  SIK1
  Salt-inducible kinase 1
  21
  Rare single gene variant
  5
  Edit
 
  GEN837
  SIN3A
  SIN3 transcription regulator family member A 
  15
  Rare single gene variant
  5
  Edit
 
  GEN783
  Solute carrier family 12 (potassium/chloride transporter), member 5 
  20
  Rare single gene variant
  4
  Edit
 
  GEN331
  solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
  17
  Rare Single Gene variant
  2
  Edit
 
  GEN462
  Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)
  12
  Rare single gene variant
  1
  Edit
 
  GEN231
  SLC1A1
  solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
  9
  Genetic association
  11
  Edit
 
  GEN706
  SLC1A2
  Solute carrier family 1 (glial high affinity glutamate transporter), member 2
  11
  Multigenic CNV
  6
  Edit
 
  GEN393
  Solute carrier family 22, member 15
  1
  Genetic association
  1
  Edit
 
  GEN809
  solute carrier family 22 member 9
  11
  Rare single gene variant
  3
  Edit
 
  GEN506
  Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
  9
  Rare single gene variant
  2
  Edit
 
  GEN232
  solute carrier family 25 (mitochondrial carrier, Aralar), member 12
  2
  Genetic Association
  19
  Edit
 
  GEN463
  Solute carrier family 25 (mitochondrial carrier, brain), member 14
  X
  Functional
  1
  Edit
 
  GEN464
  Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
  1
  Functional
  1
  Edit
 
  GEN465
  Solute carrier family 25, member 27
  6
  Genetic association/functional
  1
  Edit
 
  GEN784
  Solute carrier family 27 (fatty acid transporter), member 4 
  9
  Rare single gene variant, genetic association
  1
  Edit
 
  GEN622
  Solute carrier family 29 (equilibrative nucleoside transporter), member 4
  7
  Rare single gene variant
  1
  Edit
 
  GEN835
  solute carrier family 30 member 3
  2
  Functional
  2
  Edit
 
  GEN233
  solute carrier family 30
  5
  Rare Single Gene variant
  3
  Edit
 
  GEN832
  solute carrier family 33 member 1
  3
  Functional
  4
  Edit
 
  GEN575
  Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
  1
  Rare single gene variant
  1
  Edit
 
  GEN270
  solute carrier family 38, member 10
  17
  Rare Single Gene variant
  1
  Edit
 
  GEN402
  Solute carrier family 39 (metal ion transporter), member 11
  17
  Genetic association
  1
  Edit
 
  GEN234
  solute carrier family 4, sodium bicarbonate transporter-like, member 10
  2
  Genetic Association
  6
  Edit
 
  GEN714
  SLC6A1
  Solute carrier family 6 (neurotransmitter transporter), member 1
  3
  Rare single gene variant
  10
  Edit
 
  GEN568
  SLC6A3
  Solute carrier family 6 (neurotransmitter transporter), member 3
  5
  Rare single gene variant
  11
  Edit
 
  GEN235
  SLC6A4
  solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
  17
  Genetic Association
  25
  Edit
 
  GEN236
  SLC6A8
  solute carrier family 6 (neurotransmitter transporter, creatine), member 8
  X
  Rare Single Gene variant
  9
  Edit
 
  GEN744
  SLC7A3
  Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
  X
  Rare single gene variant
  2
  Edit
 
  GEN860
  SLC7A5
  solute carrier family 7 member 5
  16
  Functional/syndromic
  1
  Edit
 
  GEN237
  SLC9A6
  solute carrier family 9 (sodium/hydrogen exchanger), member 6
  X
  Syndromic
  11
  Edit
 
  GEN238
  SLC9A9
  solute carrier family 9 (sodium/hydrogen exchanger), member 9
  3
  Rare Single Gene variant
  10
  Edit
 
  GEN704
  Solute carrier organic anion transporter family, member 1B3 
  12
  Rare single gene variant
  2
  Edit
 
  GEN597
  SLIT3
  Slit homolog 3 (Drosophila)
  5
  Multigenic CNV
  2
  Edit
 
  GEN558
  SLIT and NTRK-like family, member 5
  13
  Functional
  8
  Edit
 
  GEN731
  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  9
  Genetic association/functional
  9
  Edit
 
  GEN732
  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
  12
  Functional
  7
  Edit
 
  GEN877
  SMC3
  structural maintenance of chromosomes 3 
  10
  Rare single gene variant
  3
  Edit
 
  GEN520
  SMG6
  Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
  17
  Multigenic CNV
  2
  Edit
 
  GEN701
  SNAP25
  Synaptosomal-associated protein, 25kDa
  20
  Genetic association
  5
  Edit
 
  GEN239
  SND1
  staphylococcal nuclease and tudor domain containing 1
  7
  Genetic Association
  8
  Edit
 
  GEN343
  SNRPN
  small nuclear ribonucleoprotein polypeptide N
  15
  Rare Single Gene variant
  5
  Edit
 
  GEN360
  SNTG2
  Syntrophin, gamma 2
  2
  Rare single gene variant
  5
  Edit
 
  GEN717
  SNX14
  Sorting nexin 14
  6
  Syndromic
  4
  Edit
 
  GEN466
  SNX19
  Sorting nexin 19
  11
  Rare single gene variant
  2
  Edit
 
  GEN604
  SOD1
  Superoxide dismutase 1, soluble
  21
  Functional
  2
  Edit
 
  GEN366
  SOX5
  SRY (sex determining region Y)-box 5
  12
  Rare single gene variant
  8
  Edit
 
  GEN793
  SPARC like 1
  4
  Functional
  3
  Edit
 
  GEN348
  SPAST
  Spastin
  2
  Rare Single Gene variant
  7
  Edit
 
  GEN871
  SRCAP
  Snf2 related CREBBP activator protein
  16
  Rare single gene variant
  4
  Edit
 
  GEN556
  SRD5A2
  Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  2
  Genetic association
  3
  Edit
 
  GEN879
  SRGAP3
  SLIT-ROBO Rho GTPase activating protein 3
  3
  Rare single gene variant
  3
  Edit
 
  GEN671
  SRRM4
  Serine/arginine repetitive matrix 4
  12
  Functional
  5
  Edit
 
  GEN740
  SSPO
  SCO-spondin 
  7
  Rare single gene variant
  3
  Edit
 
  GEN240
  ST7
  suppression of tumorigenicity 7
  7
  Rare Single Gene variant
  4
  Edit
 
  GEN420
  ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
  15
  Genetic association
  7
  Edit
 
  GEN863
  STAG1
  stromal antigen 1
  3
  Syndromic
  1
  Edit
 
  GEN842
  STAT1
  signal transducer and activator of transcription 1
  2
  Rare single gene variant
  2
  Edit
 
  GEN241
  STK39
  serine threonine kinase 39 (STE20/SPS1 homolog, yeast)
  2
  Genetic Association
  5
  Edit
 
  GEN600
  STX1A
  Syntaxin 1A (brain)
  7
  Genetic association
  6
  Edit
 
  GEN390
  STXBP1
  Syntaxin binding protein 1
  9
  Syndromic
  24
  Edit
 
  GEN598
  STXBP5
  Syntaxin binding protein 5 (tomosyn) 
  6
  Rare single gene variant
  6
  Edit
 
  GEN778
  STYK1
  Serine/threonine/tyrosine kinase 1
  12
  Genetic association
  1
  Edit
 
  GEN242
  SUCLG2
  succinate-CoA ligase, GDP-forming, beta subunit
  3
  Rare Single Gene variant
  4
  Edit
 
  GEN504
  SYAP1
  Synapse associated protein 1
  X
  Rare single gene variant
  2
  Edit
 
  GEN243
  SYN1
  Synapsin 1
  X
  Rare Single Gene variant
  16
  Edit
 
  GEN563
  SYN2
  Synapsin II
  3
  Genetic association
  6
  Edit
 
  GEN564
  SYN3
  Synapsin III
  22
  Functional
  1
  Edit
 
  GEN244
  SYNE1
  spectrin repeat containing, nuclear envelope 1
  6
  Rare Single Gene variant
  14
  Edit
 
  GEN245
  synaptic Ras GTPase activating protein 1
  6
  Rare Single Gene variant
  34
  Edit
 
  GEN246
  SYT17
  synaptotagmin XVII
  16
  Genetic Association
  2
  Edit
 
  GEN341
  SYT3
  synaptotagmin III
  19
  Rare Single Gene variant
  1
  Edit
 
  GEN792
  TAF1
  TATA-box binding protein associated factor 1
  X
  Rare single gene variant
  3
  Edit
 
  GEN392
  TAF1C
  TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa
  16
  Genetic association
  1
  Edit
 
  GEN247
  TAF1L
  TAF1 RNA polymerase II
  9
  Rare Single Gene variant
  3
  Edit
 
  GEN878
  TANC2
  etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 
  17
  Rare single gene variant
  3
  Edit
 
  GEN727
  TBC1 domain family, member 31
  8
  Rare single gene variant
  2
  Edit
 
  GEN248
  TBC1D5
  TBC1 domain family, member 5
  3
  Rare Single Gene variant
  6
  Edit
 
  GEN543
  TBC1D7
  TBC1 domain family, member 7
  6
  Functional
  4
  Edit
 
  GEN301
  TBL1X
  transducin (beta)-like 1X-linked
  X
  Genetic Association
  1
  Edit
 
  GEN476
  Transducin (beta)-like 1 X-linked receptor 1
  3
  Rare Single Gene variant
  10
  Edit
 
  GEN477
  TBR1
  T-box, brain, 1
  2
  Rare Single Gene variant
  16
  Edit
 
  GEN286
  TBX1
  T-box 1
  22
  Syndromic
  1
  Edit
 
  GEN633
  TCF20
  Transcription factor 20 (AR1)
  22
  Rare single gene variant
  5
  Edit
 
  GEN592
  TCF4
  Transcription factor 4
  18
  Syndromic
  28
  Edit
 
  GEN652
  TCF7L2
  Transcription factor 7-like 2 (T-cell specific, HMG-box)
  10
  Rare single gene variant
  2
  Edit
 
  GEN249
  TDO2
  tryptophan 2,3-dioxygenase
  4
  Genetic Association
  4
  Edit
 
  GEN757
  TERF2
  Telomeric repeat binding factor 2
  16
  Rare single gene variant
  3
  Edit
 
  GEN823
  TERT
  telomerase reverse transcriptase 
  5
  Rare single gene variant
  2
  Edit
 
  GEN728
  TET2
  Tet methylcytosine dioxygenase 2
  4
  Rare single gene variant
  3
  Edit
 
  GEN250
  TGM3
  transglutaminase 3
  20
  Rare Single Gene variant
  5
  Edit
 
  GEN251
  TH
  tyrosine hydroxylase
  11
  Genetic Association
  7
  Edit
 
  GEN696
  THAP8
  THAP domain containing 8
  19
  Rare single gene variant
  1
  Edit
 
  GEN638
  THBS1
  Thrombospondin 1
  15
  Genetic association/rare single gene variant
  1
  Edit
 
  GEN421
  THRA
  Thyroid hormone receptor, alpha
  17
  Functional
  2
  Edit
 
  GEN252
  TLK2
  tousled-like kinase 2
  17
  Rare Single Gene variant
  7
  Edit
 
  GEN566
  Transmembrane 4 L six family member 20
  2
  Rare single gene variant
  1
  Edit
 
  GEN467
  Transmembrane protein 231
  16
  Syndromic
  2
  Edit
 
  GEN269
  TMLHE
  trimethyllysine hydroxylase, epsilon
  X
  Rare Single Gene variant
  5
  Edit
 
  GEN295
  TNIP2
  TNFAIP3 interacting protein 2
  4
  Rare Single Gene variant
  1
  Edit
 
  GEN697
  TNN
  Tenascin N
  1
  Rare single gene variant
  3
  Edit
 
  GEN653
  TNRC6B
  Trinucleotide repeat containing 6B
  22
  Rare single gene variant
  5
  Edit
 
  GEN468
  TOMM20
  Translocase of outer mitochondrial membrane 20 homolog (yeast)
  1
  Functional
  1
  Edit
 
  GEN569
  TOP1
  Topoisomerase (DNA) I
  20
  Rare Single Gene variant
  6
  Edit
 
  GEN561
  TOP3B
  Topoisomerase (DNA) III beta
  22
  Rare single gene variant
  5
  Edit
 
  GEN254
  TPH2
  tryptophan hydroxylase 2
  12
  Genetic Association
  12
  Edit
 
  GEN381
  TPO
  Thyroid peroxidase
  2
  Genetic association
  1
  Edit
 
  GEN584
  TRIM33
  Tripartite motif containing 33
  1
  Genetic association/Functional
  1
  Edit
 
  GEN664
  TRIO
  Trio Rho guanine nucleotide exchange factor 
  5
  Rare Single Gene variant
  15
  Edit
 
  GEN354
  TRIP12
  Thyroid hormone receptor interactor 12
  2
  Rare single gene variant
  12
  Edit
 
  GEN666
  TRPC6
  Transient receptor potential cation channel, subfamily C, member 6 
  11
  Rare single gene variant/functional
  2
  Edit
 
  GEN513
  TRPM1
  Transient receptor potential cation channel, subfamily M, member 1
  15
  Rare single gene variant
  3
  Edit
 
  GEN255
  TSC1
  tuberous sclerosis 1
  9
  Rare Single Gene variant
  16
  Edit
 
  GEN256
  TSC2
  tuberous sclerosis 2
  16
  Genetic Association
  23
  Edit
 
  GEN850
  TSHZ3
  teashirt zinc finger homeobox 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN258
  TSN
  translin
  2
  Functional
  3
  Edit
 
  GEN259
  TSPAN7
  tetraspanin 7
  X
  Rare Single Gene variant
  7
  Edit
 
  GEN565
  TTI2
  TELO2 interacting protein 2
  8
  Rare single gene variant
  1
  Edit
 
  GEN260
  TTN
  titin
  2
  Rare Single Gene variant
  13
  Edit
 
  GEN321
  tubulin, gamma complex associated protein 5
  15
  Multigenic CNV
  3
  Edit
 
  GEN422
  TYR
  Tyrosinase (oculocutaneous albinism IA)
  11
  Functional
  3
  Edit
 
  GEN546
  UBA6
  Ubiquitin-like modifier activating enzyme 6
  4
  Functional
  2
  Edit
 
  GEN261
  UBE2H
  ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
  7
  Genetic Association
  1
  Edit
 
  GEN262
  UBE3A
  ubiquitin protein ligase E3A
  15
  Genetic Association
  23
  Edit
 
  GEN351
  UBE3B
  ubiquitin protein ligase E3B
  12
  Rare single gene variant
  5
  Edit
 
  GEN478
  UBE3C
  Ubiquitin protein ligase E3C
  7
  Rare Single Gene variant
  4
  Edit
 
  GEN300
  UBL7
  ubiquitin-like 7 (bone marrow stromal cell-derived)
  15
  Rare Single Gene variant
  1
  Edit
 
  GEN469
  UBR5
  Ubiquitin protein ligase E3 component n-recognin 5
  8
  Rare single gene variant
  5
  Edit
 
  GEN275
  UBR7
  ubiquitin protein ligase E3 component n-recognin 7 (putative)
  14
  Rare Single Gene variant
  1
  Edit
 
  GEN845
  UCN3
  urocortin 3
  10
  Functional
  1
  Edit
 
  GEN869
  UNC13A
  unc-13 homolog A
  19
  Rare single gene variant
  3
  Edit
 
  GEN873
  UNC80
  unc-80 homolog, NALCN activator
  2
  Rare single gene variant
  3
  Edit
 
  GEN509
  UPB1
  Ureidopropionase, beta
  22
  Rare single gene variant
  1
  Edit
 
  GEN518
  UPF2
  UPF2 regulator of nonsense transcripts homolog (yeast)
  10
  Multigenic CNV
  4
  Edit
 
  GEN364
  UPF3B
  UPF3 regulator of nonsense transcripts homolog B (yeast)
  X
  Syndromic
  10
  Edit
 
  GEN770
  USP45
  Ubiquitin specific peptidase 45
  6
  Rare single gene variant
  2
  Edit
 
  GEN758
  USP7
  Ubiquitin specific peptidase 7 (herpes virus-associated) 
  16
  Rare single gene variant
  5
  Edit
 
  GEN313
  USP9Y
  ubiquitin specific peptidase 9, Y-linked
  Y
  Genetic Association
  1
  Edit
 
  GEN698
  UTRN
  Utrophin
  6
  Rare single gene variant
  1
  Edit
 
  GEN263
  VASH1
  vasohibin 1
  14
  Genetic Association
  4
  Edit
 
  GEN665
  VIL1
  Villin 1
  2
  Rare single gene variant
  1
  Edit
 
  GEN554
  VIP
  Vasoactive intestinal peptide
  6
  Functional
  6
  Edit
 
  GEN787
  VLDLR
  Very low density lipoprotein receptor
  9
  Functional
  3
  Edit
 
  GEN281
  VPS13B
  vacuolar protein sorting 13 homolog B (yeast)
  8
  Syndromic
  16
  Edit
 
  GEN751
  VSIG4
  V-set and immunoglobulin domain containing 4
  X
  Rare single gene variant
  2
  Edit
 
  GEN654
  WAC
  WW domain containing adaptor with coiled-coil
  10
  Rare single gene variant
  9
  Edit
 
  GEN635
  WDFY3
  WD repeat and FYVE domain containing 3
  4
  Rare Single Gene variant
  9
  Edit
 
  GEN699
  WDR93
  WD repeat domain 93
  15
  Rare single gene variant
  1
  Edit
 
  GEN264
  WNK3
  WNK lysine deficient protein kinase 3
  X
  Rare Single Gene variant
  6
  Edit
 
  GEN572
  WNT1
  Wingless-type MMTV integration site family, member 1
  12
  Genetic association
  3
  Edit
 
  GEN265
  WNT2
  wingless-type MMTV integration site family member 2
  7
  Genetic Association
  10
  Edit
 
  GEN851
  WWOX
  WW domain containing oxidoreductase
  16
  Rare single gene variant
  7
  Edit
 
  GEN266
  XIRP1
  xin actin-binding repeat containing 1
  3
  Rare Single Gene variant
  6
  Edit
 
  GEN267
  XPC
  xeroderma pigmentosum, complementation group C
  3
  Rare Single Gene variant
  8
  Edit
 
  GEN377
  XPO1
  Exportin 1 (CRM1 homolog, yeast)
  2
  Genetic association
  3
  Edit
 
  GEN397
  YEATS2
  YEATS domain containing 2
  3
  Genetic association
  1
  Edit
 
  GEN339
  YTHDC2
  YTH domain containing 2
  5
  Rare Single Gene variant
  4
  Edit
 
  GEN501
  YWHAE
  Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
  17
  Multigenic CNV
  5
  Edit
 
  GEN401
  ZBTB16
  Zinc finger and BTB domain containing 16
  11
  Genetic association
  1
  Edit
 
  GEN619
  ZBTB20
  Zinc finger and BTB domain containing 20
  3
  Multigenic CNV
  15
  Edit
 
  GEN875
  ZC3H4
  zinc finger CCCH-type containing 4
  19
  Rare single gene variant
  2
  Edit
 
  GEN641
  Zinc finger, MYND-type containing 11
  10
  Rare single gene variant
  8
  Edit
 
  GEN352
  ZNF18
  zinc finger protein 18
  17
  Rare single gene variant
  1
  Edit
 
  GEN854
  ZNF292
  zinc finger protein 292
  6
  Rare single gene variant
  2
  Edit
 
  GEN602
  Zinc finger protein 385B 
  2
  Genetic association
  2
  Edit
 
  GEN484
  ZNF407
  Zinc finger protein 407
  18
  Rare Single Gene variant
  5
  Edit
 
  GEN729
  ZNF462
  Zinc finger protein 462
  9
  Rare single gene variant
  4
  Edit
 
  GEN499
  ZNF517
  Zinc finger protein 517
  8
  Rare single gene variant
  2
  Edit
 
  GEN773
  ZNF559
  Zinc finger protein 559 
  19
  Rare single gene variant
  3
  Edit
 
  GEN634
  ZNF713
  Zinc finger protein 713
  7
  Rare single gene variant
  1
  Edit
 
  GEN705
  ZNF774
  Zinc finger protein 774
  15
  Rare single gene variant
  2
  Edit
 
  GEN486
  ZNF8
  Zinc finger protein 8
  19
  Rare single gene variant
  1
  Edit
 
  GEN618
  Zinc finger protein 804A
  2
  Genetic association
  10
  Edit
 
  GEN398
  ZNF827
  Zinc finger protein 827
  4
  Genetic association
  1
  Edit
 
  GEN293
  ZSWIM5
  zinc finger, SWIM-type containing 5
  1
  Rare Single Gene variant
  1
  Edit
 
  GEN798
  ZWILCH
  zwilch kinetochore protein
  15
  Rare single gene variant
  3