Hand Polydactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. (Human Phenotype Ontology, HP_0001161)
External Link https://www.disgenet.org/browser/0/1/0/C0158733
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Genes

74 genes associated with the disease Hand Polydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACOX1 acyl-CoA oxidase 1, palmitoyl
AHI1 Abelson helper integration site 1
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B9D1 B9 protein domain 1
BHLHA9 basic helix-loop-helix family, member a9
BLM Bloom syndrome, RecQ helicase-like
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CD96 CD96 molecule
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
CSPP1 centrosome and spindle pole associated protein 1
DEAF1 DEAF1 transcription factor
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBP emopamil binding protein (sterol isomerase)
EFNB1 ephrin-B1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM149B1 family with sequence similarity 149, member B1
FANCB Fanconi anemia, complementation group B
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
GJB6 gap junction protein, beta 6, 30kDa
GLI1 GLI family zinc finger 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
HYLS1 hydrolethalus syndrome 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQSEC2 IQ motif and Sec7 domain 2
JMJD1C jumonji domain containing 1C
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIAA0753 KIAA0753
KIF7 kinesin family member 7
LMBR1 limb development membrane protein 1
MKS1 Meckel syndrome, type 1
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIBF1 progesterone immunomodulatory binding factor 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PNPLA6 patatin-like phospholipase domain containing 6
PORCN porcupine homolog (Drosophila)
PTEN phosphatase and tensin homolog
RAI1 retinoic acid induced 1
RBM10 RNA binding motif protein 10
RPGRIP1L RPGRIP1-like
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
TBX1 T-box 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
UFD1 ubiquitin recognition factor in ER associated degradation 1
WASHC5 WASH complex subunit 5
ZIC3 Zic family member 3
ZNF423 zinc finger protein 423