OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Dwarfism ×
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 A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. 27796265 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 23457316 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO