rs398122967, TBC1D24

N. diseases: 12
Disease: Triphalangeal thumb ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014