Gene Scoring  /  Category 3   97 genes

Database updated on February 1, 2023

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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 Mutation36
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
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional33
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation33
CATcatalase11Rare Single Gene Mutation, Functional34
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDK5RAP2CDK5 regulatory subunit associated protein 29Rare Single Gene Mutation, Syndromic313
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation33
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation36
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, Functional39
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional34
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation35
EPHB1EPH receptor B13Rare Single Gene Mutation310
FABP4fatty acid binding protein 48Rare Single Gene Mutation33
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation32
FXNfrataxin9Rare Single Gene Mutation32
GPC5glypican 513Rare Single Gene Mutation38
GRB10growth factor receptor bound protein 107Rare Single Gene Mutation, Functional311
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic38
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene Mutation, Genetic Association312
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
IKZF1IKAROS family zinc finger 17Rare Single Gene Mutation36
ITGA8integrin subunit alpha 810Rare Single Gene Mutation36
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic37
KCNA2potassium voltage-gated channel subfamily A member 21Rare Single Gene Mutation38
KCNC2potassium voltage-gated channel subfamily C member 212Rare Single Gene Mutation310
KDM2Alysine demethylase 2A11Rare Single Gene Mutation38
KLF7Kruppel like factor 72Rare Single Gene Mutation, Functional313
KIZkizuna centrosomal protein20Genetic Association, Functional32
KNG1kininogen 13Rare Single Gene Mutation32
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation32
LMTK3lemur tyrosine kinase 319Rare Single Gene Mutation, Functional35
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 tau17Genetic Association, Functional33
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional37
MINK1misshapen like kinase 117Rare Single Gene Mutation38
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MYLKmyosin light chain kinase3Rare Single Gene Mutation33
MYOCDmyocardin17Rare Single Gene Mutation33
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
MSRAmethionine sulfoxide reductase A8Genetic Association, Functional311
NPFFR2neuropeptide FF receptor 24Rare Single Gene Mutation37
NKX2-2NK2 homeobox 220Genetic Association, Functional32
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 Mutation36
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation31
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic36
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic38
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S8
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S9
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S10
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S8
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 Association3S5
SENP1SUMO specific peptidase 112Rare Single Gene Mutation32
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, Functional39
SLC23A1solute carrier family 23 member 15Rare Single Gene Mutation35
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation32
SYPsynaptophysinXRare Single Gene Mutation34
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S2
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TMEM134transmembrane protein 13411Rare Single Gene Mutation32
TNPO3transportin 37Rare Single Gene Mutation36
TNS2tensin 212Rare Single Gene Mutation32
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic34
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional35
TRPM6transient receptor potential cation channel subfamily M member 69Rare Single Gene Mutation36
TRPC5transient receptor potential cation channel subfamily C member 5XRare Single Gene Mutation37
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation34
USP30ubiquitin specific peptidase 3012Rare Single Gene Mutation33
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation32
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, Syndromic3S9
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional315
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