| Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
| STARD10 |
StAR-related lipid transfer (START) domain containing 10 |
Mapped by significant region |
|
| EFEMP2 |
EGF containing fibulin-like extracellular matrix protein 2 |
Mapped by significant region |
|
| BEST1 |
bestrophin 1 |
Mapped by significant region |
TAS[10737974]
|
| TSC1 |
tuberous sclerosis 1 |
Mapped by PBA pathway |
IDA[16636147]
|
| ALG2 |
asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) |
Mapped by significant region |
IDA[16996505]
|
| GCNT2 |
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Mapped by CNV |
TAS[8449405]
|
| DSC3 |
desmocollin 3 |
Mapped by significant region |
TAS[7929347]
|
| PLCB3 |
phospholipase C, beta 3 (phosphatidylinositol-specific) |
Mapped by significant region |
|
| IGLL1 |
immunoglobulin lambda-like polypeptide 1 |
Mapped by CNV |
NAS[2501791]
|
| P2RX3 |
purinergic receptor P2X, ligand-gated ion channel, 3 |
Mapped by significant region |
|
| RTN4R |
reticulon 4 receptor |
Mapped by CNV |
|
| CDC42EP2 |
CDC42 effector protein (Rho GTPase binding) 2 |
Mapped by PBA pathway; Mapped by significant region |
IDA[11035016]
|
| RAB1B |
RAB1B, member RAS oncogene family |
Mapped by significant region |
|
| RC3H2 |
ring finger and CCCH-type domains 2 |
Mapped by significant region |
IDA[10938276]
|
| CXCR1 |
chemokine (C-X-C motif) receptor 1 |
Mapped by significant region |
TAS[10725748]
|
| PLN |
phospholamban |
Mapped by significant region |
IDA[19708671]
|
| CXCR2 |
chemokine (C-X-C motif) receptor 2 |
Mapped by significant region |
IDA[10725748]
|
| PDE4D |
phosphodiesterase 4D, cAMP-specific |
Mapped by CNV |
|
| CHN2 |
chimerin (chimaerin) 2 |
Mapped by CNV |
|
| ENPP7 |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
Mapped by PBA pathway |
NAS[12885774]
|
| PLA2G6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
Mapped by PBA pathway |
|
| CRBN |
cereblon |
Mapped by CNV |
|
| DSC1 |
desmocollin 1 |
Mapped by significant region |
TAS[7679953]
|
| MAN1A1 |
mannosidase, alpha, class 1A, member 1 |
Mapped by significant region |
TAS[8223597]
|
| SNX15 |
sorting nexin 15 |
Mapped by significant region |
NAS[11085978]
|
| RASL11B |
RAS-like, family 11, member B |
Mapped by CNV |
|
| SYTL2 |
synaptotagmin-like 2 |
Mapped by significant region |
|
| ARHGAP5 |
Rho GTPase activating protein 5 |
Mapped by significant region |
|
| PITPNM1 |
phosphatidylinositol transfer protein, membrane-associated 1 |
Mapped by significant region |
TAS[9245688]
|
| RYR2 |
ryanodine receptor 2 (cardiac) |
Mapped by CNV; Mapped by PBA pathway |
IDA[12443530]
|
| CDHR5 |
cadherin-related family member 5 |
Mapped by LD-proxy |
|
| NDUFAF2 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 |
Mapped by CNV |
|
| ROS1 |
c-ros oncogene 1 , receptor tyrosine kinase |
Mapped by significant region |
TAS[3785223]
|
| MARK2 |
MAP/microtubule affinity-regulating kinase 2 |
Mapped by significant region |
IMP[14976552]
|
| ACHE |
acetylcholinesterase |
Mapped by PBA pathway |
IDA[16262697]
|
| B3GNT6 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) |
Mapped by significant region |
NAS[11821425]
|
| REEP1 |
receptor accessory protein 1 |
Mapped by CNV |
|
| BSPRY |
B-box and SPRY domain containing |
Mapped by significant region |
|
| NRBP1 |
nuclear receptor binding protein 1 |
Mapped by PBA pathway |
|
| RAB30 |
RAB30, member RAS oncogene family |
Mapped by significant region |
|
| PAPPA |
pregnancy-associated plasma protein A, pappalysin 1 |
Mapped by significant region |
|
| AVEN |
apoptosis, caspase activation inhibitor |
Mapped by CNV |
IDA[10949025]
|
| VSIG2 |
V-set and immunoglobulin domain containing 2 |
Mapped by significant region |
TAS[9862345]
|
| GOPC |
golgi-associated PDZ and coiled-coil motif containing |
Mapped by significant region |
IDA[11707463]
|
| AGAP3 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
Mapped by LD-proxy |
|
| PVRL1 |
poliovirus receptor-related 1 (herpesvirus entry mediator C) |
Mapped by significant region |
TAS[9616127]
|
| ITGB1BP1 |
integrin beta 1 binding protein 1 |
Mapped by significant region |
NAS[9281591]
|
| FKBP2 |
FK506 binding protein 2, 13kDa |
Mapped by significant region |
|
| CUTA |
cutA divalent cation tolerance homolog (E. coli) |
Mapped by LD-proxy |
IDA[10800960]
|
| PLA2G4C |
phospholipase A2, group IVC (cytosolic, calcium-independent) |
Mapped by PBA pathway |
TAS[10085124]
|
| SLC14A2 |
solute carrier family 14 (urea transporter), member 2 |
Mapped by significant region |
TAS[8647271]
|
| RAB6A |
RAB6A, member RAS oncogene family |
Mapped by CNV; Mapped by significant region |
IDA[12447383]
|
| ARHGEF12 |
Rho guanine nucleotide exchange factor (GEF) 12 |
Mapped by significant region |
|
| PI4K2B |
phosphatidylinositol 4-kinase type 2 beta |
Mapped by CNV |
|
| INVS |
inversin |
Mapped by significant region |
|
| CCND1 |
cyclin D1 |
Mapped by significant region |
|
| SEMA3E |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E |
Mapped by CNV |
|
| SVEP1 |
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 |
Mapped by significant region |
|
| CUBN |
cubilin (intrinsic factor-cobalamin receptor) |
Mapped by CNV |
TAS[9478979]
|
| ADORA2A |
adenosine A2a receptor |
Mapped by CNV |
TAS[10051547]
|
| DPAGT1 |
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
Mapped by significant region |
IDA[8179616]
|
| CNTNAP2 |
contactin associated protein-like 2 |
Mapped by CNV |
IDA[10624965]
|
| SLC30A5 |
solute carrier family 30 (zinc transporter), member 5 |
Mapped by significant region |
IDA[11904301]
|
| FIBP |
fibroblast growth factor (acidic) intracellular binding protein |
Mapped by significant region |
IDA[9806903]
|
| GNRHR |
gonadotropin-releasing hormone receptor |
Mapped by significant region |
TAS[9259321]
|
| UGCG |
UDP-glucose ceramide glucosyltransferase |
Mapped by significant region |
TAS[8643456]
|
| SYT17 |
synaptotagmin XVII |
Mapped by significant region |
|
| CHST10 |
carbohydrate sulfotransferase 10 |
Mapped by CNV |
TAS[9478973]
|
| PLD1 |
phospholipase D1, phosphatidylcholine-specific |
Mapped by PBA pathway |
TAS[8530346]
|
| EIF2B1 |
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa |
Mapped by CNV |
IDA[9235896]
|
| FUT4 |
fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) |
Mapped by significant region |
TAS[1716630]
|
| GGT1 |
gamma-glutamyltransferase 1 |
Mapped by CNV |
|
| PPP1R14C |
protein phosphatase 1, regulatory (inhibitor) subunit 14C |
Mapped by CNV |
|
| DCHS1 |
dachsous 1 (Drosophila) |
Mapped by CNV |
NAS[9199196]
|
| ATP6V1F |
ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F |
Mapped by LD-proxy |
IDA[18752060]
|
| SORD |
sorbitol dehydrogenase |
Mapped by CNV |
IDA[8487505]
|
| CLINT1 |
clathrin interactor 1 |
Mapped by significant region |
|
| STMN1 |
stathmin 1 |
Mapped by PBA pathway |
|
| IL12B |
interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) |
Mapped by significant region |
|
| PNPLA8 |
patatin-like phospholipase domain containing 8 |
Mapped by PBA pathway |
IDA[10833412]
|
| ADCY4 |
adenylate cyclase 4 |
Mapped by significant region |
|
| FOLR1 |
folate receptor 1 (adult) |
Mapped by significant region |
TAS[2768245]
|
| MPP6 |
membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) |
Mapped by CNV; Mapped by significant region |
NAS[11311936]
|
| FOLR2 |
folate receptor 2 (fetal) |
Mapped by significant region |
TAS[2605182]
|
| ATP6V0D2 |
ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 |
Mapped by CNV |
IDA[18752060]
|
| ABCC1 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
Mapped by CNV; Mapped by significant region |
TAS[1360704]
|
| FOLR3 |
folate receptor 3 (gamma) |
Mapped by significant region |
TAS[8110752]
|
| TMOD1 |
tropomodulin 1 |
Mapped by significant region |
|
| PNPLA3 |
patatin-like phospholipase domain containing 3 |
Mapped by PBA pathway |
|
| VEGFB |
vascular endothelial growth factor B |
Mapped by significant region |
|
| SIPA1 |
signal-induced proliferation-associated 1 |
Mapped by significant region |
|
| ARF6 |
ADP-ribosylation factor 6 |
Mapped by PBA pathway |
TAS[8702973]
|
| EDNRA |
endothelin receptor type A |
Mapped by PBA pathway |
|
| CPD |
carboxypeptidase D |
Mapped by CNV |
TAS[9064476]
|
| CHRM1 |
cholinergic receptor, muscarinic 1 |
Mapped by PBA pathway; Mapped by significant region |
TAS[7925360]
|
| STK16 |
serine/threonine kinase 16 |
Mapped by significant region |
|
| CACNB3 |
calcium channel, voltage-dependent, beta 3 subunit |
Mapped by PBA pathway |
IDA[16525042]
|
| UGT2B7 |
UDP glucuronosyltransferase 2 family, polypeptide B7 |
Mapped by significant region |
TAS[2159463]
|
| BIRC6 |
baculoviral IAP repeat containing 6 |
Mapped by CNV |
|
| GAPVD1 |
GTPase activating protein and VPS9 domains 1 |
Mapped by significant region |
|
| FADS3 |
fatty acid desaturase 3 |
Mapped by LD-proxy; Mapped by significant region |
NAS[10860662]
|
| NAPG |
N-ethylmaleimide-sensitive factor attachment protein, gamma |
Mapped by PBA pathway |
|
| CDC42EP5 |
CDC42 effector protein (Rho GTPase binding) 5 |
Mapped by PBA pathway |
IDA[11035016]
|
| UGT2B17 |
UDP glucuronosyltransferase 2 family, polypeptide B17 |
Mapped by significant region |
TAS[8798464]
|
| CCDC88A |
coiled-coil domain containing 88A |
Mapped by PBA pathway |
IDA[15749703]
|
| PIK3CG |
phosphoinositide-3-kinase, catalytic, gamma polypeptide |
Mapped by CNV |
IDA[12507995]
|
| PNKD |
paroxysmal nonkinesigenic dyskinesia |
Mapped by significant region |
|
| BCHE |
butyrylcholinesterase |
Mapped by CNV |
|
| GRIN3A |
glutamate receptor, ionotropic, N-methyl-D-aspartate 3A |
Mapped by significant region |
IDA[17997397]
|
| PLCD4 |
phospholipase C, delta 4 |
Mapped by significant region |
|
| SLC4A2 |
solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) |
Mapped by LD-proxy; Mapped by literature SNP |
TAS[3015590]
|
| SPA17 |
sperm autoantigenic protein 17 |
Mapped by significant region |
|
| NPVF |
neuropeptide VF precursor |
Mapped by CNV; Mapped by significant region |
|
| STX4 |
syntaxin 4 |
Mapped by CNV |
TAS[7690687]
|
| DNAJC4 |
DnaJ (Hsp40) homolog, subfamily C, member 4 |
Mapped by significant region |
NAS[9473517]
|
| INPP5A |
inositol polyphosphate-5-phosphatase, 40kDa |
Mapped by CNV |
NAS[8006039]
|
| SLC4A3 |
solute carrier family 4, anion exchanger, member 3 |
Mapped by significant region |
TAS[7923606]
|