| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
AK2
|
adenylate kinase 2
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BLNK
|
B-cell linker
|
|
CA12
|
carbonic anhydrase XII
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
ITGB4
|
integrin, beta 4
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LCT
|
lactase
|
|
LIPN
|
lipase, family member N
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYO5B
|
myosin VB
|
|
NEUROG3
|
neurogenin 3
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLEC
|
plectin
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
TCF3
|
transcription factor 3
|
|
TGM1
|
transglutaminase 1
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
ZFP57
|
ZFP57 zinc finger protein
|
