bowel diverticulosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of multiple diverticula of the intestine. (Human Phenotype Ontology, HP_0005222)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005222
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Genes

19 genes associated with the bowel diverticulosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
FBLN5 fibulin 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
LIMK1 LIM domain kinase 1
MLH1 mutL homolog 1
MSH2 mutS homolog 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PTEN phosphatase and tensin homolog
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
TBL2 transducin (beta)-like 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1