abnormal renal physiology Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal functionality of the kidney. (Human Phenotype Ontology, HP_0012211)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0012211
Similar Terms
Downloads & Tools

Genes

120 genes associated with the abnormal renal physiology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.84034
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.7669
AGXT2 alanine--glyoxylate aminotransferase 2 1.45677
MED23 mediator complex subunit 23 1.13254
PLA2R1 phospholipase A2 receptor 1, 180kDa 0.766855
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 0.373524
MAP3K15 mitogen-activated protein kinase kinase kinase 15 0.359765
SFI1 Sfi1 homolog, spindle assembly associated (yeast) 0.358248
CFH complement factor H 0.350759
UMOD uromodulin 0.349237
MYH9 myosin, heavy chain 9, non-muscle 0.348298
ATXN2 ataxin 2 0.34542
SHROOM3 shroom family member 3 0.345167
NAT8 N-acetyltransferase 8 (GCN5-related, putative) 0.341101
ALMS1P Alstrom syndrome 1 pseudogene 0.340494
HORMAD2 HORMA domain containing 2 0.340494
RNF185 ring finger protein 185 0.324973
LIMK2 LIM domain kinase 2 0.323483
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.311788
ENOX1 ecto-NOX disulfide-thiol exchanger 1 0.311073
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 0.309171
LARGE like-glycosyltransferase 0.308216
GPC5 glypican 5 0.304563
GCKR glucokinase (hexokinase 4) regulator 0.2994
CHN2 chimerin 2 0.296513
SASH1 SAM and SH3 domain containing 1 0.295701
GRIK2 glutamate receptor, ionotropic, kainate 2 0.286545
PVT1 Pvt1 oncogene (non-protein coding) 0.283851
CARS cysteinyl-tRNA synthetase 0.278466
SORBS1 sorbin and SH3 domain containing 1 0.273639
ELMO1 engulfment and cell motility 1 0.266182
UNC5C unc-5 homolog C (C. elegans) 0.261644
ADAM23 ADAM metallopeptidase domain 23 0.258456
C6ORF10 chromosome 6 open reading frame 10 0.257513
LOC100294145 uncharacterized LOC100294145 0.256633
PCNT pericentrin 0.256633
LOC100132891 0.256633
TBC1D14 TBC1 domain family, member 14 0.254086
SMYD3 SET and MYND domain containing 3 0.253203
FGD4 FYVE, RhoGEF and PH domain containing 4 0.252944
PDE5A phosphodiesterase 5A, cGMP-specific 0.252944
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 0.252944
HSPA4L heat shock 70kDa protein 4-like 0.252944
PRRC2A proline-rich coiled-coil 2A 0.251143
DNAH7 dynein, axonemal, heavy chain 7 0.251143
SLC35F3 solute carrier family 35, member F3 0.250594
FAM134B family with sequence similarity 134, member B 0.250594
TTC21A tetratricopeptide repeat domain 21A 0.24902
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2 0.245835
MED27 mediator complex subunit 27 0.245341
P3H2 prolyl 3-hydroxylase 2 0.244553
ZDHHC21 zinc finger, DHHC-type containing 21 0.244175
MARCH11 membrane-associated ring finger (C3HC4) 11 0.243807
NCALD neurocalcin delta 0.243807
CLYBL citrate lyase beta like 0.243449
ISM1 isthmin 1, angiogenesis inhibitor 0.241782
IL12RB1 interleukin 12 receptor, beta 1 0.241502
DNAH11 dynein, axonemal, heavy chain 11 0.241471
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.241167
CD48 CD48 molecule 0.240869
NTN1 netrin 1 0.240752
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 0.240013
FGF12 fibroblast growth factor 12 0.23955
OR2L13 olfactory receptor, family 2, subfamily L, member 13 0.239127
MAP3K5 mitogen-activated protein kinase kinase kinase 5 0.238947
HPS1 Hermansky-Pudlak syndrome 1 0.238443
MYO5B myosin VB 0.23779
SMIM23 small integral membrane protein 23 0.237487
PRKCH protein kinase C, eta 0.237258
TMEM63C transmembrane protein 63C 0.237033
NRXN1 neurexin 1 0.236988
EPAS1 endothelial PAS domain protein 1 0.236593
LOC645513 uncharacterized LOC645513 0.236593
ZNF202 zinc finger protein 202 0.235958
RNF17 ring finger protein 17 0.235958
GAP43 growth associated protein 43 0.235551
LOC284661 uncharacterized LOC284661 0.235351
DLG2 discs, large homolog 2 (Drosophila) 0.235351
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.234827
NRXN3 neurexin 3 0.234751
NEGR1 neuronal growth regulator 1 0.234544
FABP2 fatty acid binding protein 2, intestinal 0.233853
PHACTR1 phosphatase and actin regulator 1 0.233853
ZMIZ1 zinc finger, MIZ-type containing 1 0.233676
FAM110B family with sequence similarity 110, member B 0.23333
PEX7 peroxisomal biogenesis factor 7 0.231873
CERS6 ceramide synthase 6 0.231272
RPH3A rabphilin 3A 0.229355
LRRC4C leucine rich repeat containing 4C 0.229355
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 0.229355
AHCYL2 adenosylhomocysteinase-like 2 0.229355
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.229089
PKD1L2 polycystic kidney disease 1-like 2 (gene/pseudogene) 0.228258
MS4A4A membrane-spanning 4-domains, subfamily A, member 4A 0.227991
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.227598
KRT2 keratin 2, type II 0.22747
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.223441
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.222488
TMEM196 transmembrane protein 196 0.220745
BID BH3 interacting domain death agonist 0.219944
MMS22L MMS22-like, DNA repair protein 0.216915
NPSR1 neuropeptide S receptor 1 0.215286
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 0.213662
SV2C synaptic vesicle glycoprotein 2C 0.213158
CST9 cystatin 9 (testatin) 0.213158
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.213158
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 0.210448
YPEL1 yippee-like 1 (Drosophila) 0.210448
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 0.209259
THBS4 thrombospondin 4 0.206746
TMPO thymopoietin 0.205614
BMPR1B bone morphogenetic protein receptor, type IB 0.204899
TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) 0.203549
NFE2 nuclear factor, erythroid 2 0.202297
ITGA1 integrin, alpha 1 0.201413
VWF von Willebrand factor 0.198033
COL5A1 collagen, type V, alpha 1 0.195208
COL4A1 collagen, type IV, alpha 1 0.195208
GRHL2 grainyhead-like 2 (Drosophila) 0.195009
BMP5 bone morphogenetic protein 5 0.194046