IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.120 GeneticVariation disease BEFREE Identified IHH variants segregate with short stature in a dominant inheritance pattern. 29155992 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.120 Biomarker disease BEFREE Brachydactyly A1 (BDA1) is an autosomal dominant disorder characterized by shortness of all middle phalanges of the hands and toes, shortness of the proximal phalanges of the first digit, and short stature. 20683927 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.120 Biomarker disease HPO