Gene Scoring  /  Category 3   143 genes

Database updated on March 28, 2024

Chromosomes:  All
  • Select all
  • Unselect all

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABL2ABL proto-oncogene 2, non-receptor tyrosine kinase1Rare Single Gene Mutation, Functional310
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, Syndromic3S5
AGAP5ArfGAP with GTPase domain, ankyrin repeat and PH domain 510Rare Single Gene Mutation32
ALDH1L1aldehyde dehydrogenase 1 family member L13Rare Single Gene Mutation37
ARHGEF2Rho/Rac guanine nucleotide exchange factor 21Rare Single Gene Mutation, Syndromic37
ATP2B1ATPase plasma membrane Ca2+ transporting 112Rare Single Gene Mutation, Syndromic3S2
BACE1beta-secretase 111Rare Single Gene Mutation, Functional34
BAIAP2L1BAR/IMD domain containing adaptor protein 2 like 17Rare Single Gene Mutation36
BCL11BBCL11 transcription factor B14Rare Single Gene Mutation, Syndromic, Functional37
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional33
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation33
CAMK2Dcalcium/calmodulin dependent protein kinase II delta4Rare Single Gene Mutation, Syndromic3S2
CATcatalase11Rare Single Gene Mutation, Functional34
CBX1chromobox 117Rare Single Gene Mutation, Syndromic3S3
CDH2cadherin 218Rare Single Gene Mutation, Syndromic3S8
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDK5RAP2CDK5 regulatory subunit associated protein 29Rare Single Gene Mutation, Syndromic314
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation34
CERT1ceramide transporter 15Rare Single Gene Mutation, Syndromic3S7
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation38
CHMCHMRab escort proteinXRare Single Gene Mutation37
CHST2carbohydrate sulfotransferase 23Rare Single Gene Mutation33
CLIP2CAP-Gly domain containing linker protein 27Genetic Association31
CSMD3CUB and Sushi multiple domains 38Rare Single Gene Mutation, Functional310
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
DGKIdiacylglycerol kinase iota7Rare Single Gene Mutation, Genetic Association34
DHX9DExH-box helicase 91Rare Single Gene Mutation, Syndromic3S5
DNM1dynamin 19Rare Single Gene Mutation310
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional34
EIF5Aeukaryotic translation initiation factor 5A17Rare Single Gene Mutation, Syndromic34
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation35
EPHB1EPH receptor B13Rare Single Gene Mutation310
FABP4fatty acid binding protein 48Rare Single Gene Mutation33
FBXL13F-box and leucine rich repeat protein 137Rare Single Gene Mutation32
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation32
FLNAfilamin AXRare Single Gene Mutation, Syndromic, Functional311
FXNfrataxin9Rare Single Gene Mutation32
FRMD5FERM domain containing 515Rare Single Gene Mutation, Syndromic, Functional3S5
FRYLFRY like transcription coactivator4Rare Single Gene Mutation, Syndromic3S8
GABRG2gamma-aminobutyric acid type A receptor subunit gamma 25Rare Single Gene Mutation, Genetic Association311
GPC5glypican 513Rare Single Gene Mutation39
GRB10growth factor receptor bound protein 107Rare Single Gene Mutation, Functional312
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic312
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene Mutation, Genetic Association314
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
IKZF1IKAROS family zinc finger 17Rare Single Gene Mutation36
ITGA8integrin subunit alpha 810Rare Single Gene Mutation37
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic38
KCNA2potassium voltage-gated channel subfamily A member 21Rare Single Gene Mutation311
KCNA3potassium voltage-gated channel subfamily A member 31Rare Single Gene Mutation32
KCNC2potassium voltage-gated channel subfamily C member 212Rare Single Gene Mutation313
KCNH5potassium voltage-gated channel subfamily H member 514Rare Single Gene Mutation35
KDM2Alysine demethylase 2A11Rare Single Gene Mutation39
KDM3Alysine demethylase 3A2Rare Single Gene Mutation34
KLF7Kruppel like factor 72Rare Single Gene Mutation, Functional314
KNG1kininogen 13Rare Single Gene Mutation32
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation33
LMTK3lemur tyrosine kinase 319Rare Single Gene Mutation, Functional36
MACF1microtubule actin crosslinking factor 11Rare Single Gene Mutation, Syndromic, Functional3S9
MAP4K1mitogen-activated protein kinase kinase kinase kinase 119Rare Single Gene Mutation35
MAPK8IP1mitogen-activated protein kinase 8 interacting protein 111Rare Single Gene Mutation34
MAPTmicrotubule associated protein tau17Rare Single Gene Mutation, Genetic Association, Functional34
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional37
KIZkizuna centrosomal protein20Genetic Association, Functional32
MINK1misshapen like kinase 117Rare Single Gene Mutation38
MSL2MSL complex subunit 23Rare Single Gene Mutation35
MSRAmethionine sulfoxide reductase A8Rare Single Gene Mutation, Genetic Association, Functional313
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MYLKmyosin light chain kinase3Rare Single Gene Mutation34
MYOCDmyocardin17Rare Single Gene Mutation33
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunitXRare Single Gene Mutation, Syndromic3S13
NASPnuclear autoantigenic sperm protein1Rare Single Gene Mutation33
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
NKX2-2NK2 homeobox 220Genetic Association, Functional32
NPFFR2neuropeptide FF receptor 24Rare Single Gene Mutation37
NPTNneuroplastin15Rare Single Gene Mutation33
NXF1nuclear RNA export factor 111Rare Single Gene Mutation32
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic3S6
PCpyruvate carboxylase11Rare Single Gene Mutation38
PDE3Bphosphodiesterase 3B11Rare Single Gene Mutation38
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation32
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic36
PDHA1pyruvate dehydrogenase E1 subunit alpha 1XRare Single Gene Mutation35
PHLPP1PH domain and leucine rich repeat protein phosphatase 118Rare Single Gene Mutation35
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic38
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
PLEKHA8pleckstrin homology domain containing A87Rare Single Gene Mutation32
PLPPR4phospholipid phosphatase related 41Rare Single Gene Mutation, Functional37
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S11
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S11
PPFIA3PTPRF interacting protein alpha 319Rare Single Gene Mutation, Syndromic, Functional3S8
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S13
PRPF19pre-mRNA processing factor 1911Rare Single Gene Mutation33
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S9
PRR25proline rich 2516Rare Single Gene Mutation32
PTDSS1phosphatidylserine synthase 18Rare Single Gene Mutation, Syndromic36
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S4
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S6
RPH3Arabphilin 3A12Rare Single Gene Mutation, Functional37
SCGNsecretagogin, EF-hand calcium binding protein6Rare Single Gene Mutation, Functional34
SENP1SUMO specific peptidase 112Rare Single Gene Mutation33
SENP6SUMO specific peptidase 66Rare Single Gene Mutation34
SH3RF1SH3 domain containing ring finger 14Rare Single Gene Mutation, Functional35
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, Functional310
SLC23A1solute carrier family 23 member 15Rare Single Gene Mutation35
SLFN5schlafen family member 517Rare Single Gene Mutation34
SNCAIPsynuclein alpha interacting protein5Rare Single Gene Mutation33
SRSF1serine and arginine rich splicing factor 117Rare Single Gene Mutation, Syndromic3S4
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation33
SYPsynaptophysinXRare Single Gene Mutation34
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S4
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TGM1transglutaminase 114Rare Single Gene Mutation33
TMEM134transmembrane protein 13411Rare Single Gene Mutation33
TNPO3transportin 37Rare Single Gene Mutation38
TNS2tensin 212Rare Single Gene Mutation34
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic34
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional35
TRIM8tripartite motif containing 810Rare Single Gene Mutation, Syndromic3S5
TRPC5transient receptor potential cation channel subfamily C member 5XRare Single Gene Mutation37
TRPM6transient receptor potential cation channel subfamily M member 69Rare Single Gene Mutation36
U2AF2U2 small nuclear RNA auxiliary factor 219Rare Single Gene Mutation, Syndromic37
TRPC4transient receptor potential cation channel subfamily C member 413Rare Single Gene Mutation, Genetic Association, Functional35
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation35
USP30ubiquitin specific peptidase 3012Rare Single Gene Mutation33
VCPvalosin containing protein9Rare Single Gene Mutation, Functional34
VPS54VPS54subunit of GARP complex2Rare Single Gene Mutation33
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation33
USP27Xubiquitin specific peptidase 27 X-linkedXRare Single Gene Mutation36
WDR37WD repeat domain 3710Rare Single Gene Mutation, Syndromic36
WWP1WW domain containing E3 ubiquitin protein ligase 18Rare Single Gene Mutation32
XRCC6X-ray repair cross complementing 622Rare Single Gene Mutation32
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S13
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional316
ZBTB47zinc finger and BTB domain containing 473Rare Single Gene Mutation31
ZFHX3zinc finger homeobox 316Rare Single Gene Mutation, Syndromic3S12
ZFXzinc finger protein X-linkedXRare Single Gene Mutation, Syndromic3S4
Submit New Gene

Report an Error