anorectal anomaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the anus or rectum. (Human Phenotype Ontology, HP_0012732)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012732
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Genes

93 genes associated with the anorectal anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
BMPR1A bone morphogenetic protein receptor, type IA
BRCA2 breast cancer 2, early onset
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCHS1 dachsous cadherin-related 1
DKC1 dyskeratosis congenita 1, dyskerin
DPYS dihydropyrimidinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EPCAM epithelial cell adhesion molecule
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GREM1 gremlin 1, DAN family BMP antagonist
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HOXD13 homeobox D13
IFT80 intraflagellar transport 80
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2D lysine (K)-specific methyltransferase 2D
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
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MID1 midline 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
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
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POMT1 protein-O-mannosyltransferase 1
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRSS1 protease, serine, 1 (trypsin 1)
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
RFX6 regulatory factor X, 6
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SMAD4 SMAD family member 4
STK11 serine/threonine kinase 11
TBX3 T-box 3
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UPB1 ureidopropionase, beta
VANGL1 VANGL planar cell polarity protein 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
ZIC3 Zic family member 3