abnormality of the rectum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. (Human Phenotype Ontology, HP_0002034)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002034
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Genes

40 genes associated with the abnormality of the rectum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BMPR1A bone morphogenetic protein receptor, type IA
CCBE1 collagen and calcium binding EGF domains 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
EPCAM epithelial cell adhesion molecule
FREM1 FRAS1 related extracellular matrix 1
GREM1 gremlin 1, DAN family BMP antagonist
IL10RB interleukin 10 receptor, beta
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
RECQL4 RecQ protein-like 4
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SMAD4 SMAD family member 4
STK11 serine/threonine kinase 11
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VANGL1 VANGL planar cell polarity protein 1