Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
RHBDL1 |
rhomboid, veinlet-like 1 (Drosophila) |
Mapped by significant region |
IEA
|
RYR2 |
ryanodine receptor 2 (cardiac) |
Mapped by CNV; Mapped by PBA pathway |
IEA
|
SYT7 |
synaptotagmin VII |
Mapped by significant region |
IEA
|
NECAB2 |
N-terminal EF-hand calcium binding protein 2 |
Mapped by CNV; Mapped by significant region |
IEA
|
TBC1D9B |
TBC1 domain family, member 9B (with GRAM domain) |
Mapped by CNV |
IEA
|
DSG4 |
desmoglein 4 |
Mapped by significant region |
IEA
|
CCBE1 |
collagen and calcium binding EGF domains 1 |
Mapped by significant region |
IEA
|
RASGRP2 |
RAS guanyl releasing protein 2 (calcium and DAG-regulated) |
Mapped by significant region |
NAS[10918068]; TAS[9789079]
|
HSPA5 |
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) |
Mapped by significant region |
TAS[16130169]
|
DGKG |
diacylglycerol kinase, gamma 90kDa |
Mapped by Literature SNP |
IEA
|
CLSTN2 |
calsyntenin 2 |
Mapped by CNV |
IEA
|
SVEP1 |
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 |
Mapped by significant region |
IEA
|
EDEM2 |
ER degradation enhancer, mannosidase alpha-like 2 |
Mapped by Literature SNP |
IEA
|
CDH19 |
cadherin 19, type 2 |
Mapped by LD-proxy; Mapped by CNV |
IEA
|
DCHS1 |
dachsous cadherin-related 1 |
Mapped by CNV |
IEA
|
UMOD |
uromodulin |
Mapped by significant region |
IEA
|
PLA2G3 |
phospholipase A2, group III |
Mapped by PBA pathway |
IEA
|
PLA2G10 |
phospholipase A2, group X |
Mapped by significant region; Mapped by PBA pathway |
IEA
|
MYLPF |
myosin light chain, phosphorylatable, fast skeletal muscle |
Mapped by CNV |
IEA
|
PNLIPRP1 |
pancreatic lipase-related protein 1 |
Mapped by PBA pathway |
ISS
|
DSG2 |
desmoglein 2 |
Mapped by significant region |
IEA
|
ITIH1 |
inter-alpha-trypsin inhibitor heavy chain 1 |
Mapped by LD-proxy |
TAS[2446322]
|
DSC2 |
desmocollin 2 |
Mapped by significant region |
IEA
|
RYR3 |
ryanodine receptor 3 |
Mapped by CNV; Mapped by PBA pathway |
IEA
|
PPEF2 |
protein phosphatase, EF-hand calcium binding domain 2 |
Mapped by CNV |
IEA
|
ACTN3 |
actinin, alpha 3 (gene/pseudogene) |
Mapped by significant region |
IEA
|
CABP4 |
calcium binding protein 4 |
Mapped by significant region |
NAS[16960802]; TAS[15452577]
|
CUBN |
cubilin (intrinsic factor-cobalamin receptor) |
Mapped by CNV |
IEA
|
LPCAT4 |
lysophosphatidylcholine acyltransferase 4 |
Mapped by CNV |
IEA
|
CDH2 |
cadherin 2, type 1, N-cadherin (neuronal) |
Mapped by significant region |
IEA
|
NKD2 |
naked cuticle homolog 2 (Drosophila) |
Mapped by significant region |
IEA
|
STIM2 |
stromal interaction molecule 2 |
Mapped by CNV |
IDA[18166150]
|
REPS2 |
RALBP1 associated Eps domain containing 2 |
Mapped by CNV |
IEA
|
PLCD1 |
phospholipase C, delta 1 |
Mapped by PBA pathway |
IEA
|
PCDH7 |
protocadherin 7 |
Mapped by CNV |
IEA
|
EYS |
eyes shut homolog (Drosophila) |
Mapped by significant region |
IEA
|
CBL |
Cbl proto-oncogene, E3 ubiquitin protein ligase |
Mapped by significant region |
IEA
|
CDH4 |
cadherin 4, type 1, R-cadherin (retinal) |
Mapped by CNV |
IEA
|
PLA2G5 |
phospholipase A2, group V |
Mapped by PBA pathway |
IEA
|
HPCAL1 |
hippocalcin-like 1 |
Mapped by significant region |
IEA
|
CABP2 |
calcium binding protein 2 |
Mapped by significant region |
IEA
|
F10 |
coagulation factor X |
Mapped by CNV |
IEA
|
PLCD4 |
phospholipase C, delta 4 |
Mapped by significant region |
IEA
|
PLCB3 |
phospholipase C, beta 3 (phosphatidylinositol-specific) |
Mapped by significant region |
IEA
|
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
Mapped by CNV |
IEA
|
CDHR1 |
cadherin-related family member 1 |
Mapped by CNV |
IEA
|
MMP10 |
matrix metallopeptidase 10 (stromelysin 2) |
Mapped by significant region |
IEA
|
PPP3R2 |
protein phosphatase 3, regulatory subunit B, beta |
Mapped by significant region |
IEA
|
DSG3 |
desmoglein 3 |
Mapped by significant region |
IEA
|
PLA2G2D |
phospholipase A2, group IID |
Mapped by PBA pathway |
IEA
|
PLCH1 |
phospholipase C, eta 1 |
Mapped by PBA pathway |
IEA
|
ASPN |
asporin |
Mapped by significant region |
IDA[19589127]
|
CABYR |
calcium binding tyrosine-(Y)-phosphorylation regulated |
Mapped by significant region |
IDA[11820818]
|
LPCAT1 |
lysophosphatidylcholine acyltransferase 1 |
Mapped by LD-proxy; Mapped by significant region |
IEA
|
CANX |
calnexin |
Mapped by CNV |
IEA
|
GSN |
gelsolin |
Mapped by significant region; Mapped by PBA pathway |
TAS[1321812]
|
VWCE |
von Willebrand factor C and EGF domains |
Mapped by significant region |
IEA
|
LTBP1 |
latent transforming growth factor beta binding protein 1 |
Mapped by CNV |
IEA
|
MMP27 |
matrix metallopeptidase 27 |
Mapped by significant region |
IEA
|
MMP1 |
matrix metallopeptidase 1 (interstitial collagenase) |
Mapped by significant region |
IEA
|
MMP25 |
matrix metallopeptidase 25 |
Mapped by significant region |
IEA
|
MAN1A1 |
mannosidase, alpha, class 1A, member 1 |
Mapped by significant region |
IEA
|
CRB2 |
crumbs family member 2 |
Mapped by significant region |
IEA
|
CDHR5 |
cadherin-related family member 5 |
Mapped by LD-proxy |
ISS
|
DSC3 |
desmocollin 3 |
Mapped by significant region |
IEA
|
DNASE1L2 |
deoxyribonuclease I-like 2 |
Mapped by significant region |
TAS[9205125]
|
MMP13 |
matrix metallopeptidase 13 (collagenase 3) |
Mapped by significant region |
IEA
|
CD248 |
CD248 molecule, endosialin |
Mapped by significant region |
IEA
|
NELL1 |
NEL-like 1 (chicken) |
Mapped by CNV |
IEA
|
DSC1 |
desmocollin 1 |
Mapped by significant region |
IEA
|
MEGF9 |
multiple EGF-like-domains 9 |
Mapped by significant region |
NAS
|
CAPN1 |
calpain 1, (mu/I) large subunit |
Mapped by significant region |
IEA
|
MMP11 |
matrix metallopeptidase 11 (stromelysin 3) |
Mapped by CNV |
IEA
|
SYNRG |
synergin, gamma |
Mapped by CNV |
IEA
|
MICU2 |
mitochondrial calcium uptake 2 |
Mapped by significant region |
IEA
|
CDH15 |
cadherin 15, type 1, M-cadherin (myotubule) |
Mapped by CNV; Mapped by significant region |
IEA
|
PLA2G2E |
phospholipase A2, group IIE |
Mapped by PBA pathway |
IEA
|
SYT4 |
synaptotagmin IV |
Mapped by significant region |
IEA
|
MMP16 |
matrix metallopeptidase 16 (membrane-inserted) |
Mapped by CNV |
IEA
|
VIL1 |
villin 1 |
Mapped by significant region |
IDA[11500485]
|
CELSR2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
Mapped by CNV |
IEA
|
PLCE1 |
phospholipase C, epsilon 1 |
Mapped by PBA pathway |
IEA
|
EFEMP2 |
EGF containing fibulin-like extracellular matrix protein 2 |
Mapped by significant region |
IEA
|
MMP20 |
matrix metallopeptidase 20 |
Mapped by significant region |
IEA
|
PLA2G2A |
phospholipase A2, group IIA (platelets, synovial fluid) |
Mapped by PBA pathway |
IEA
|
DUOX2 |
dual oxidase 2 |
Mapped by CNV |
IDA[15972824]
|
KCNIP1 |
Kv channel interacting protein 1 |
Mapped by Literature SNP |
IEA
|
DTNA |
dystrobrevin, alpha |
Mapped by significant region |
IEA
|
EHD3 |
EH-domain containing 3 |
Mapped by CNV |
IEA
|
ADAM8 |
ADAM metallopeptidase domain 8 |
Mapped by LD-proxy; Mapped by CNV |
ISS
|
MMP3 |
matrix metallopeptidase 3 (stromelysin 1, progelatinase) |
Mapped by significant region |
IEA
|
PLA2G1B |
phospholipase A2, group IB (pancreas) |
Mapped by PBA pathway |
IDA[7060561]
|
PDCD6 |
programmed cell death 6 |
Mapped by significant region |
ISS
|
CAPN14 |
calpain 14 |
Mapped by CNV |
IEA
|
DSG1 |
desmoglein 1 |
Mapped by significant region |
NAS[1770008]
|
MMP12 |
matrix metallopeptidase 12 (macrophage elastase) |
Mapped by significant region |
IEA
|
CALN1 |
calneuron 1 |
Mapped by CNV |
IEA
|
RAB11FIP3 |
RAB11 family interacting protein 3 (class II) |
Mapped by significant region |
IEA
|
CDH9 |
cadherin 9, type 2 (T1-cadherin) |
Mapped by significant region |
IEA
|
MMP8 |
matrix metallopeptidase 8 (neutrophil collagenase) |
Mapped by significant region |
IEA
|
PLA2G4B |
phospholipase A2, group IVB (cytosolic) |
Mapped by PBA pathway |
NAS[10085124]
|
CAPSL |
calcyphosine-like |
Mapped by significant region |
IEA
|
CHP2 |
calcineurin-like EF-hand protein 2 |
Mapped by significant region |
IDA
|
CDH12 |
cadherin 12, type 2 (N-cadherin 2) |
Mapped by CNV; Mapped by significant region |
IEA
|
EEF2K |
eukaryotic elongation factor-2 kinase |
Mapped by CNV; Mapped by significant region |
IEA
|
EFCAB5 |
EF-hand calcium binding domain 5 |
Mapped by LD-proxy |
IEA
|
PLCB2 |
phospholipase C, beta 2 |
Mapped by PBA pathway |
IEA
|
RHOT2 |
ras homolog family member T2 |
Mapped by significant region |
IEA
|
RYR1 |
ryanodine receptor 1 (skeletal) |
Mapped by PBA pathway |
IEA
|
EHD1 |
EH-domain containing 1 |
Mapped by significant region |
IEA
|
ATP2A1 |
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
Mapped by Literature SNP |
IMP[9405806]; ISS
|
SUSD1 |
sushi domain containing 1 |
Mapped by significant region |
IEA
|
TLL1 |
tolloid-like 1 |
Mapped by Literature SNP |
IEA
|
CDH10 |
cadherin 10, type 2 (T2-cadherin) |
Mapped by significant region |
IEA
|
PKD1L2 |
polycystic kidney disease 1-like 2 |
Mapped by significant region |
IEA
|
CDH6 |
cadherin 6, type 2, K-cadherin (fetal kidney) |
Mapped by significant region |
IEA
|
NDUFAB1 |
NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa |
Mapped by significant region |
NAS[10234612]
|
CDH18 |
cadherin 18, type 2 |
Mapped by significant region |
IEA
|
PNLIPRP2 |
pancreatic lipase-related protein 2 |
Mapped by PBA pathway |
IDA[18702514]
|
LTBP3 |
latent transforming growth factor beta binding protein 3 |
Mapped by significant region |
IEA
|
EDEM3 |
ER degradation enhancer, mannosidase alpha-like 3 |
Mapped by significant region |
IEA
|
DUOX1 |
dual oxidase 1 |
Mapped by CNV |
IEA
|
FAT3 |
FAT atypical cadherin 3 |
Mapped by significant region |
IEA
|