Complete Duplication Of Proximal Phalanx Of The Thumb Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. (Human Phenotype Ontology, HP_0009608)
External Link https://www.disgenet.org/browser/0/1/0/C4024273
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Genes

2 genes associated with the disease Complete Duplication Of Proximal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CHSY1 chondroitin sulfate synthase 1
RAB23 RAB23, member RAS oncogene family