Gene Scoring  /  Category 2   212 genes

Database updated on January 13, 2021

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation25
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association27
ADCY3adenylate cyclase 32Rare Single Gene Mutation22
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation25
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation27
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation23
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation25
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association23
AMTAminomethyltransferase3Rare Single Gene Mutation21
AGO2argonaute RISC catalytic component 28Syndromic21
AHNAKAHNAKnucleoprotein11Rare Single Gene Mutation25
ANXA1Annexin A19Rare Single Gene Mutation22
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional23
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation23
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation23
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic, Functional28
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association214
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional29
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association210
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association224
BICRABRD4 interacting chromatin remodeling complex associated protein19Syndromic21
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation27
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional222
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation227
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association26
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional213
CCNG1cyclin G15Rare Single Gene Mutation21
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation, Syndromic29
CDH13cadherin 1316Rare Single Gene Mutation23
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic26
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CGNL1Cingulin-like 115Rare Single Gene Mutation24
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation214
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation21
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation23
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S7
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association27
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association, Functional223
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association29
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association214
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S69
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional26
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional211
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic25
CPEB4cytoplasmic polyadenylation element binding protein 45Functional21
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation26
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic, Functional210
CUL7Cullin 76Rare Single Gene Mutation26
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional217
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation22
DDHD2DDHD domain containing 28Rare Single Gene Mutation, Genetic Association, Functional24
DENRdensity-regulated protein12Rare Single Gene Mutation23
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation24
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association234
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation22
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional210
DLX3distal-less homeobox 317Rare Single Gene Mutation23
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation211
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation211
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation25
DCCDCCnetrin 1 receptor18Genetic Association23
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EP400E1A binding protein p40012Rare Single Gene Mutation26
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional24
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation24
ERBINerbb2 interacting protein5Rare Single Gene Mutation26
FBN1Fibrillin 115Rare Single Gene Mutation211
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association29
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation22
FRG1FSHD region gene 14Rare Single Gene Mutation21
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation22
GPC4glypican 4XRare Single Gene Mutation22
GPHNGephyrin14Rare Single Gene Mutation28
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation26
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association26
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association219
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation29
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional218
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association244
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation213
FGFR1fibroblast growth factor receptor 18Genetic Association21
GALNT10polypeptide N-acetylgalactosaminyltransferase 105Genetic Association25
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic29
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association26
ICA1islet cell autoantigen 17Rare Single Gene Mutation28
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation25
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association216
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association212
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S15
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association211
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association226
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation24
KDM4Clysine demethylase 4C9Rare Single Gene Mutation23
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic27
KIAA1586KIAA15866Rare Single Gene Mutation24
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic24
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation216
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association27
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation24
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
KDM5Alysine demethylase 5A12Rare Single Gene Mutation21
LRP1LDL receptor related protein 112Rare Single Gene Mutation24
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association220
MAPT-AS1MAPT antisense RNA 117Genetic Association21
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional239
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation26
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional213
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic2S6
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
MYH10myosin heavy chain 1017Rare Single Gene Mutation25
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association25
MYO9BMyosin IXB19Rare Single Gene Mutation24
NAV2neuron navigator 211Rare Single Gene Mutation29
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional27
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation23
NINLNinein-like20Rare Single Gene Mutation26
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional225
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association219
MYH9myosin heavy chain 922Rare Single Gene Mutation25
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation23
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic215
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation22
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional24
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional248
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation24
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation24
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation, Syndromic25
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association27
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S9
PER2period circadian clock 22Rare Single Gene Mutation25
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation24
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation27
PLXNA4Plexin A47Rare Single Gene Mutation, Functional25
PLXNB1plexin B13Rare Single Gene Mutation23
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation, Genetic Association23
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional24
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional24
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association27
PRKD2protein kinase D219Rare Single Gene Mutation23
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association215
PHBprohibitin17Genetic Association21
PHF7PHD finger protein 73Rare Single Gene Mutation23
PON1paraoxonase 17Genetic Association25
PTCHD1-ASPTCHD1antisense RNA (head to head)XRare Single Gene Mutation23
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation, Syndromic27
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation28
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation25
RANBP17RAN binding protein 175Rare Single Gene Mutation26
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association238
RBM27RNA binding motif protein 275Rare Single Gene Mutation23
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional28
RPS10P2-AS1ribosomal protein S10 pseudogene 2 anti-sense 120Genetic Association, Functional24
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation23
SBF1SET binding factor 122Rare Single Gene Mutation29
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic22
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Rare Single Gene Mutation, Genetic Association, Functional217
SETSETnuclear proto-oncogene9Rare Single Gene Mutation25
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association28
SHOXshort stature homeoboxX,YRare Single Gene Mutation22
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation26
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation22
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association, Functional215
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation, Functional24
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional29
SMAD4SMAD family member 418Rare Single Gene Mutation26
SNX5sorting nexin 520Rare Single Gene Mutation23
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional23
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation, Syndromic211
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association29
SORCS3sortilin related VPS10 domain containing receptor 310Rare Single Gene Mutation, Syndromic, Genetic Association26
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation26
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation23
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional26
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation24
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation23
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation24
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association25
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation, Syndromic211
SLC35B1solute carrier family 35 member B117Genetic Association21
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic214
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation23
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation24
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation24
UBN2ubinuclein 27Rare Single Gene Mutation24
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation27
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation24
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
VIL1Villin 12Rare Single Gene Mutation23
WDFY4WDFY family member 410Rare Single Gene Mutation27
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic29
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation24
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic212
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association, Functional215
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S6
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