Anus, Imperforate Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0003466
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Genes

138 genes associated with the disease Anus, Imperforate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GLCT beta 3-glucosyltransferase
BCOR BCL6 corepressor
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC22 coiled-coil domain containing 22
CD19 CD19 molecule
CD81 CD81 molecule
CDC45 cell division cycle 45
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CEP120 centrosomal protein 120kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DPYS dihydropyrimidinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBF2 early B-cell factor 2
EDNRB endothelin receptor type B
EMC1 ER membrane protein complex subunit 1
ERCC4 excision repair cross-complementation group 4
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FMN2 formin 2
FOXF1 forkhead box F1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
FXYD1 FXYD domain containing ion transport regulator 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HOXD13 homeobox D13
HSPA9 heat shock 70kDa protein 9 (mortalin)
ICOS inducible T-cell co-stimulator
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
INTU inturned planar cell polarity protein
JMJD1C jumonji domain containing 1C
KCNG3 potassium channel, voltage gated modifier subfamily G, member 3
KCNG4 potassium channel, voltage gated modifier subfamily G, member 4
KCNK4 potassium channel, two pore domain subfamily K, member 4
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LARGE like-glycosyltransferase
LONP1 lon peptidase 1, mitochondrial
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
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
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
PALB2 partner and localizer of BRCA2
PCSK5 proprotein convertase subtilisin/kexin type 5
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PITX2 paired-like homeodomain 2
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma
PQBP1 polyglutamine binding protein 1
PRKCD protein kinase C, delta
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
RFWD3 ring finger and WD repeat domain 3
RREB1 ras responsive element binding protein 1
RSPO2 R-spondin 2
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
RYR3 ryanodine receptor 3
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCN1B sodium channel, voltage gated, type I beta subunit
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLX4 SLX4 structure-specific endonuclease subunit
SOX2 SRY (sex determining region Y)-box 2
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
TBX1 T-box 1
TBX3 T-box 3
TCTN3 tectonic family member 3
TEF thyrotrophic embryonic factor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TP63 tumor protein p63
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBE2T ubiquitin-conjugating enzyme E2T
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1 ubiquitin recognition factor in ER associated degradation 1
USP9X ubiquitin specific peptidase 9, X-linked
VANGL1 VANGL planar cell polarity protein 1
WASHC5 WASH complex subunit 5
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
WNT7A wingless-type MMTV integration site family, member 7A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZIC3 Zic family member 3