IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Disease: BRACHYDACTYLY, TYPE A1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917854
rs121917854
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1862151
Disease:
BRACHYDACTYLY, TYPE A1 (disorder) 		0.800 GeneticVariation UNIPROT In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN). 21537345 2011
dbSNP: rs121917854
rs121917854
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1862151
Disease:
BRACHYDACTYLY, TYPE A1 (disorder) 		0.800 GeneticVariation UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778 2002
dbSNP: rs121917854
rs121917854
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1862151
Disease:
BRACHYDACTYLY, TYPE A1 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389 2001
dbSNP: rs121917854
rs121917854
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1862151
Disease:
BRACHYDACTYLY, TYPE A1 (disorder) 		T 0.800 CausalMutation CLINVAR