abnormality of the anus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the anal canal. (Human Phenotype Ontology, HP_0004378)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004378
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Genes

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

Symbol Name
AMER1 APC membrane recruitment protein 1
BRCA2 breast cancer 2, early onset
CCDC22 coiled-coil domain containing 22
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
DCHS1 dachsous cadherin-related 1
DKC1 dyskeratosis congenita 1, dyskerin
DPYS dihydropyrimidinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
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
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HOXD13 homeobox D13
IFT80 intraflagellar transport 80
IL10RA interleukin 10 receptor, alpha
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MID1 midline 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX2 paired-like homeodomain 2
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
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
TBX3 T-box 3
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