abnormal large intestine physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A functional anomaly of the large intestine. (Human Phenotype Ontology, HP_0012700)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012700
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Genes

24 genes associated with the abnormal large intestine physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BCR breakpoint cluster region
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DDHD2 DDHD domain containing 2
FMR1 fragile X mental retardation 1
FUZ fuzzy planar cell polarity protein
GLA galactosidase, alpha
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
HPSE2 heparanase 2 (inactive)
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
MAPK1 mitogen-activated protein kinase 1
PLP1 proteolipid protein 1
SALL1 spalt-like transcription factor 1
SCN4A sodium channel, voltage gated, type IV alpha subunit
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
TBX1 T-box 1
TP63 tumor protein p63
UFD1L ubiquitin fusion degradation 1 like (yeast)
VANGL1 VANGL planar cell polarity protein 1
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF592 zinc finger protein 592