IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Disease: Acrocapitofemoral Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917856
rs121917856
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1843096
Disease:
Acrocapitofemoral Dysplasia 		0.800 GeneticVariation UNIPROT Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327 2003
dbSNP: rs121917856
rs121917856
Entrez Id: 3549;100422957
Gene Symbol: IHH;MIR3131
IHH;MIR3131
CUI: C1843096
Disease:
Acrocapitofemoral Dysplasia 		A 0.800 CausalMutation CLINVAR