Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
KIAA0196 |
KIAA0196 |
Mapped by CNV |
|
FBXO7 |
F-box protein 7 |
Mapped by LD-proxy |
|
CACNA1A |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
Mapped by PBA pathway |
IDA[16595610]
|
IGHMBP2 |
immunoglobulin mu binding protein 2 |
Mapped by CNV; Mapped by significant region |
|
SPG7 |
spastic paraplegia 7 (pure and complicated autosomal recessive) |
Mapped by significant region |
|
MAP3K11 |
mitogen-activated protein kinase kinase kinase 11 |
Mapped by significant region |
|
DBC1 |
deleted in bladder cancer 1 |
Mapped by significant region |
IDA[14712213]
|
FA2H |
fatty acid 2-hydroxylase |
Mapped by significant region |
|
FUS |
fused in sarcoma |
Mapped by CNV |
|
SPTBN2 |
spectrin, beta, non-erythrocytic 2 |
Mapped by significant region |
|
REEP1 |
receptor accessory protein 1 |
Mapped by CNV |
|
BNIP3 |
BCL2/adenovirus E1B 19kDa interacting protein 3 |
Mapped by CNV |
IDA[10891486]
|
SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
Mapped by LD-proxy |
|
TPP1 |
tripeptidyl peptidase I |
Mapped by CNV |
|
NIPA1 |
non imprinted in Prader-Willi/Angelman syndrome 1 |
Mapped by significant region |
|
PANK2 |
pantothenate kinase 2 |
Mapped by CNV |
|
PLA2G6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
Mapped by PBA pathway |
|
TARDBP |
TAR DNA binding protein |
Mapped by literature SNP |
|
PNPLA8 |
patatin-like phospholipase domain containing 8 |
Mapped by PBA pathway |
IDA[15695510]
|
GAN |
gigaxonin |
Mapped by significant region |
|
BSCL2 |
Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
Mapped by significant region |
|
FOLR1 |
folate receptor 1 (adult) |
Mapped by significant region |
|
NUP62 |
nucleoporin 62kDa |
Mapped by PBA pathway |
IMP[11244088]
|
OPTN |
optineurin |
Mapped by PBA pathway |
|
SMPD1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
Mapped by CNV; Mapped by PBA pathway |
|
DAGLA |
diacylglycerol lipase, alpha |
Mapped by significant region |
|