Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
CNOT6 |
CCR4-NOT transcription complex, subunit 6 |
Mapped by CNV |
|
RUFY4 |
RUN and FYVE domain containing 4 |
Mapped by significant region |
|
KDM4D |
lysine (K)-specific demethylase 4D |
Mapped by significant region |
|
MGAT1 |
mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
Mapped by CNV |
|
CPSF3 |
cleavage and polyadenylation specific factor 3, 73kDa |
Mapped by significant region |
|
COLEC12 |
collectin sub-family member 12 |
Mapped by CNV |
|
ACAT1 |
acetyl-CoA acetyltransferase 1 |
Mapped by CNV; Mapped by significant region |
|
NT5M |
5',3'-nucleotidase, mitochondrial |
Mapped by significant region |
|
LMAN2L |
lectin, mannose-binding 2-like |
Mapped by PBA pathway |
|
ITGA2 |
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) |
Mapped by LD-proxy |
|
MGAT4B |
mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B |
Mapped by CNV |
|
GMPR2 |
guanosine monophosphate reductase 2 |
Mapped by significant region |
|
CYB5B |
cytochrome b5 type B (outer mitochondrial membrane) |
Mapped by CNV |
|
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
Mapped by PBA pathway |
|
STAC3 |
SH3 and cysteine rich domain 3 |
Mapped by CNV |
|
CACNA1B |
calcium channel, voltage-dependent, N type, alpha 1B subunit |
Mapped by PBA pathway |
|
KARS |
lysyl-tRNA synthetase |
Mapped by significant region |
|
COL27A1 |
collagen, type XXVII, alpha 1 |
Mapped by significant region |
|
PDE2A |
phosphodiesterase 2A, cGMP-stimulated |
Mapped by significant region |
|
DAK |
dihydroxyacetone kinase 2 homolog (S. cerevisiae) |
Mapped by significant region |
|
ALKBH5 |
alkB, alkylation repair homolog 5 (E. coli) |
Mapped by significant region |
|
NAALAD2 |
N-acetylated alpha-linked acidic dipeptidase 2 |
Mapped by significant region |
|
PRKD1 |
protein kinase D1 |
Mapped by significant region |
|
ENPP3 |
ectonucleotide pyrophosphatase/phosphodiesterase 3 |
Mapped by significant region |
|
SMG1 |
smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) |
Mapped by significant region |
|
NDUFV1 |
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa |
Mapped by significant region |
|
CHPF |
chondroitin polymerizing factor |
Mapped by significant region |
|
KAT5 |
K(lysine) acetyltransferase 5 |
Mapped by significant region |
|
NDUFS8 |
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) |
Mapped by significant region |
|
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
Mapped by LD-proxy; Mapped by literature SNP |
|
PDE4D |
phosphodiesterase 4D, cAMP-specific |
Mapped by CNV |
|
DROSHA |
drosha, ribonuclease type III |
Mapped by significant region |
|
ESCO1 |
establishment of cohesion 1 homolog 1 (S. cerevisiae) |
Mapped by significant region |
|
TGFBR1 |
transforming growth factor, beta receptor 1 |
Mapped by significant region |
|
CHN2 |
chimerin (chimaerin) 2 |
Mapped by CNV |
|
DAGLA |
diacylglycerol lipase, alpha |
Mapped by significant region |
|
LMAN1 |
lectin, mannose-binding, 1 |
Mapped by LD-proxy; Mapped by PBA pathway; Mapped by significant region |
|
PDE7B |
phosphodiesterase 7B |
Mapped by significant region |
|
ITPA |
inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
Mapped by CNV |
|
PTS |
6-pyruvoyltetrahydropterin synthase |
Mapped by significant region |
|
GDPD4 |
glycerophosphodiester phosphodiesterase domain containing 4 |
Mapped by significant region |
|
TNFRSF11A |
tumor necrosis factor receptor superfamily, member 11a, NFKB activator |
Mapped by CNV |
|
ITK |
IL2-inducible T-cell kinase |
Mapped by significant region |
|
PITPNM1 |
phosphatidylinositol transfer protein, membrane-associated 1 |
Mapped by significant region |
|
CACNA1D |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
Mapped by PBA pathway |
|
ADAT1 |
adenosine deaminase, tRNA-specific 1 |
Mapped by significant region |
|
HDDC2 |
HD domain containing 2 |
Mapped by significant region |
|
HDDC3 |
HD domain containing 3 |
Mapped by LD-proxy |
|
PPP6C |
protein phosphatase 6, catalytic subunit |
Mapped by significant region |
|
SUMF1 |
sulfatase modifying factor 1 |
Mapped by CNV |
|
FGD3 |
FYVE, RhoGEF and PH domain containing 3 |
Mapped by significant region |
|
TGM7 |
transglutaminase 7 |
Mapped by LD-proxy |
|
RNASEL |
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) |
Mapped by significant region |
|
PPP4C |
protein phosphatase 4, catalytic subunit |
Mapped by CNV |
|
EYA4 |
eyes absent homolog 4 (Drosophila) |
Mapped by significant region |
|
MTL5 |
metallothionein-like 5, testis-specific (tesmin) |
Mapped by CNV; Mapped by significant region |
NAS[10191092]
|
TGM1 |
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) |
Mapped by significant region |
|
ATP13A4 |
ATPase type 13A4 |
Mapped by CNV |
|
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
Mapped by CNV |
|
IREB2 |
iron-responsive element binding protein 2 |
Mapped by LD-proxy |
|
ITGAL |
integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) |
Mapped by CNV |
|
EBF1 |
early B-cell factor 1 |
Mapped by significant region |
|
FBP2 |
fructose-1,6-bisphosphatase 2 |
Mapped by significant region |
|
ARSJ |
arylsulfatase family, member J |
Mapped by CNV |
|
ME3 |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
Mapped by significant region |
|
FBP1 |
fructose-1,6-bisphosphatase 1 |
Mapped by significant region |
IMP[8387495]
|
XPA |
xeroderma pigmentosum, complementation group A |
Mapped by significant region |
|
GDE1 |
glycerophosphodiester phosphodiesterase 1 |
Mapped by significant region |
|
NUBPL |
nucleotide binding protein-like |
Mapped by significant region |
|
B3GAT1 |
beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) |
Mapped by CNV; Mapped by significant region |
|
PPP1CA |
protein phosphatase 1, catalytic subunit, alpha isozyme |
Mapped by significant region |
|
PC |
pyruvate carboxylase |
Mapped by significant region |
|
ACSM2B |
acyl-CoA synthetase medium-chain family member 2B |
Mapped by significant region |
|
UPB1 |
ureidopropionase, beta |
Mapped by CNV |
|
ACSM2A |
acyl-CoA synthetase medium-chain family member 2A |
Mapped by significant region |
|
THAP6 |
THAP domain containing 6 |
Mapped by CNV |
|
MDP1 |
magnesium-dependent phosphatase 1 |
Mapped by significant region |
|
THAP7 |
THAP domain containing 7 |
Mapped by CNV |
|
PELO |
pelota homolog (Drosophila) |
Mapped by LD-proxy; Mapped by literature SNP |
|
CTDSP1 |
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 |
Mapped by significant region |
|
ASXL3 |
additional sex combs like 3 (Drosophila) |
Mapped by significant region |
|
HPX |
hemopexin |
Mapped by CNV |
|
UQCRC2 |
ubiquinol-cytochrome c reductase core protein II |
Mapped by CNV; Mapped by significant region |
|
PRKAA1 |
protein kinase, AMP-activated, alpha 1 catalytic subunit |
Mapped by significant region |
|
PNLIP |
pancreatic lipase |
Mapped by PBA pathway |
|
ACSM1 |
acyl-CoA synthetase medium-chain family member 1 |
Mapped by significant region |
|
SYT10 |
synaptotagmin X |
Mapped by CNV |
|
HERC2P3 |
hect domain and RLD 2 pseudogene 3 |
Mapped by significant region |
|
PDZD8 |
PDZ domain containing 8 |
Mapped by LD-proxy |
|
GALNS |
galactosamine (N-acetyl)-6-sulfate sulfatase |
Mapped by significant region |
|
SLX1A |
SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) |
Mapped by CNV |
|
PTGS1 |
prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) |
Mapped by significant region |
|
CACNA1H |
calcium channel, voltage-dependent, T type, alpha 1H subunit |
Mapped by PBA pathway |
|
NUDT8 |
nudix (nucleoside diphosphate linked moiety X)-type motif 8 |
Mapped by significant region |
|
SMPD2 |
sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) |
Mapped by PBA pathway |
|
SYT9 |
synaptotagmin IX |
Mapped by CNV |
|
CACNA1E |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
Mapped by PBA pathway; Mapped by significant region |
|
ROCK2 |
Rho-associated, coiled-coil containing protein kinase 2 |
Mapped by significant region |
|
UNC13C |
unc-13 homolog C (C. elegans) |
Mapped by CNV |
|
HDHD1 |
haloacid dehalogenase-like hydrolase domain containing 1 |
Mapped by LD-proxy; Mapped by literature SNP |
|
ADCY4 |
adenylate cyclase 4 |
Mapped by significant region |
|
FOLH1B |
folate hydrolase 1B |
Mapped by significant region |
|
THOP1 |
thimet oligopeptidase 1 |
Mapped by LD-proxy |
|
BCO2 |
beta-carotene oxygenase 2 |
Mapped by significant region |
|
HECTD1 |
HECT domain containing 1 |
Mapped by significant region |
|
GTF2H3 |
general transcription factor IIH, polypeptide 3, 34kDa |
Mapped by CNV |
|
TPP1 |
tripeptidyl peptidase I |
Mapped by CNV |
|
ACSM5 |
acyl-CoA synthetase medium-chain family member 5 |
Mapped by significant region |
|
STK32C |
serine/threonine kinase 32C |
Mapped by CNV |
|
BCMO1 |
beta-carotene 15,15'-monooxygenase 1 |
Mapped by significant region |
|
CACNA1F |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP |
|
NRXN2 |
neurexin 2 |
Mapped by significant region |
|
ACSM3 |
acyl-CoA synthetase medium-chain family member 3 |
Mapped by significant region |
|
AIFM3 |
apoptosis-inducing factor, mitochondrion-associated, 3 |
Mapped by CNV |
|
STK32B |
serine/threonine kinase 32B |
Mapped by CNV |
|
ADAL |
adenosine deaminase-like |
Mapped by LD-proxy |
|
ENDOD1 |
endonuclease domain containing 1 |
Mapped by significant region |
|
CYBASC3 |
cytochrome b, ascorbate dependent 3 |
Mapped by significant region |
|
CARNS1 |
carnosine synthase 1 |
Mapped by significant region |
|
B4GALT6 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 |
Mapped by significant region |
|
JMJD1C |
jumonji domain containing 1C |
Mapped by PBA pathway |
|
PRLR |
prolactin receptor |
Mapped by significant region |
|
DGCR8 |
DiGeorge syndrome critical region gene 8 |
Mapped by CNV |
|
NAALADL1 |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
Mapped by significant region |
|
ACY3 |
aspartoacylase (aminocyclase) 3 |
Mapped by significant region |
|
USP2 |
ubiquitin specific peptidase 2 |
Mapped by significant region |
|
CYBA |
cytochrome b-245, alpha polypeptide |
Mapped by significant region |
|
ALKBH8 |
alkB, alkylation repair homolog 8 (E. coli) |
Mapped by significant region |
|
RPL37AP8 |
ribosomal protein L37a pseudogene 8 |
Mapped by significant region |
|
PON2 |
paraoxonase 2 |
Mapped by PBA pathway |
|
B4GALT4 |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 |
Mapped by CNV |
|
CRYAB |
crystallin, alpha B |
Mapped by significant region |
|
LATS2 |
LATS, large tumor suppressor, homolog 2 (Drosophila) |
Mapped by significant region |
|
RPL37A |
ribosomal protein L37a |
Mapped by significant region |
|
STEAP2 |
six transmembrane epithelial antigen of the prostate 2 |
Mapped by PBA pathway |
|
PPM1K |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
Mapped by CNV |
|
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Mapped by significant region |
|
TAF1B |
TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa |
Mapped by significant region |
|
SMPD4 |
sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) |
Mapped by PBA pathway; Mapped by significant region |
|
MUS81 |
MUS81 endonuclease homolog (S. cerevisiae) |
Mapped by significant region |
|
RPL37 |
ribosomal protein L37 |
Mapped by significant region |
|
CACNA2D1 |
calcium channel, voltage-dependent, alpha 2/delta subunit 1 |
Mapped by PBA pathway |
|
QTRTD1 |
queuine tRNA-ribosyltransferase domain containing 1 |
Mapped by LD-proxy |
|
NT5DC1 |
5'-nucleotidase domain containing 1 |
Mapped by significant region |
|
PRKRIR |
protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) |
Mapped by significant region |
|
CACNA1S |
calcium channel, voltage-dependent, L type, alpha 1S subunit |
Mapped by PBA pathway |
|
ACACA |
acetyl-CoA carboxylase alpha |
Mapped by CNV |
|
ZNHIT3 |
zinc finger, HIT-type containing 3 |
Mapped by CNV; Mapped by PBA pathway |
|
COL10A1 |
collagen, type X, alpha 1 |
Mapped by significant region |
|
ZNHIT2 |
zinc finger, HIT-type containing 2 |
Mapped by significant region |
|