abnormality of the renal pelvis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the renal pelvis. (Human Phenotype Ontology, HP_0010944)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010944
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57 genes associated with the abnormality of the renal pelvis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCBE1 collagen and calcium binding EGF domains 1
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CPT2 carnitine palmitoyltransferase 2
CRTAP cartilage associated protein
DHCR7 7-dehydrocholesterol reductase
EBP emopamil binding protein (sterol isomerase)
ERBB3 erb-b2 receptor tyrosine kinase 3
FAM20C family with sequence similarity 20, member C
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FOXF1 forkhead box F1
G6PC3 glucose 6 phosphatase, catalytic, 3
GPC3 glypican 3
HOXD13 homeobox D13
HPSE2 heparanase 2 (inactive)
HYLS1 hydrolethalus syndrome 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LTBP4 latent transforming growth factor beta binding protein 4
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MKKS McKusick-Kaufman syndrome
NBN nibrin
NSDHL NAD(P) dependent steroid dehydrogenase-like
PEX1 peroxisomal biogenesis factor 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PORCN porcupine homolog (Drosophila)
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHH sonic hedgehog
SOX17 SRY (sex determining region Y)-box 17
SOX9 SRY (sex determining region Y)-box 9
SRCAP Snf2-related CREBBP activator protein
STRA6 stimulated by retinoic acid 6
TBX1 T-box 1
TBX15 T-box 15
TP63 tumor protein p63
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WFS1 Wolfram syndrome 1 (wolframin)
WNT5A wingless-type MMTV integration site family, member 5A
XDH xanthine dehydrogenase
ZIC3 Zic family member 3