Triphalangeal Thumb Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. (Human Phenotype Ontology, HP_0001199)
External Link https://www.disgenet.org/browser/0/1/0/C0241397
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Genes

54 genes associated with the disease Triphalangeal Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHN1 chimerin 1
COL25A1 collagen, type XXV, alpha 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
ERCC4 excision repair cross-complementation group 4
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
FGFR3 fibroblast growth factor receptor 3
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HOXA13 homeobox A13
HOXD13 homeobox D13
IL1B interleukin 1, beta
KIF7 kinesin family member 7
LMBR1 limb development membrane protein 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
PALB2 partner and localizer of BRCA2
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFWD3 ring finger and WD repeat domain 3
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLX4 SLX4 structure-specific endonuclease subunit
SPP1 secreted phosphoprotein 1
SRCAP Snf2-related CREBBP activator protein
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TBX5 T-box 5
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TP63 tumor protein p63
TWIST1 twist family bHLH transcription factor 1
UBE2T ubiquitin-conjugating enzyme E2T
UMOD uromodulin
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2