Popliteal Pterygium Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description NT MGI. (Human Disease Ontology, DOID_0060055)
External Link https://www.disgenet.org/browser/0/1/0/C0265259
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Genes

46 genes associated with the disease Popliteal Pterygium Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACTB actin, beta
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ALB albumin
AQP2 aquaporin 2 (collecting duct)
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
B3GLCT beta 3-glucosyltransferase
CCL21 chemokine (C-C motif) ligand 21
CCL7 chemokine (C-C motif) ligand 7
CHUK conserved helix-loop-helix ubiquitous kinase
CRH corticotropin releasing hormone
CRHR2 corticotropin releasing hormone receptor 2
CXCL8 chemokine (C-X-C motif) ligand 8
DIO1 deiodinase, iodothyronine, type I
DIO2 deiodinase, iodothyronine, type II
DST dystonin
DUSP2 dual specificity phosphatase 2
EZR ezrin
FAS Fas cell surface death receptor
FBXO7 F-box protein 7
GJB2 gap junction protein, beta 2, 26kDa
GUCY2C guanylate cyclase 2C
IFNG interferon, gamma
IL10 interleukin 10
IRF6 interferon regulatory factor 6
KITLG KIT ligand
KLF6 Kruppel-like factor 6
MEFV Mediterranean fever
MMP9 matrix metallopeptidase 9
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MZB1 marginal zone B and B1 cell-specific protein
NCOR2 nuclear receptor corepressor 2
NGF nerve growth factor (beta polypeptide)
NHLH1 nescient helix loop helix 1
NPR3 natriuretic peptide receptor 3
PARK2 parkin RBR E3 ubiquitin protein ligase
PCNA proliferating cell nuclear antigen
POFUT2 protein O-fucosyltransferase 2
PSMG1 proteasome (prosome, macropain) assembly chaperone 1
RIPK4 receptor-interacting serine-threonine kinase 4
SPP1 secreted phosphoprotein 1
TAC1 tachykinin, precursor 1
WNT11 wingless-type MMTV integration site family, member 11
ZNF645 zinc finger protein 645