Disease Term Disease ID Gene Symbol Classification References Source
Cartilage-hair hypoplasia 175, C0220748 RMRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2328993, 8444246, 11207361, 12107819, 14569125, 14608646, 16244706, 16254002, 16832578, 16838329, 17015150, 17189938, 17701897, 17937437, 18164267, 18804272, 19626344, 20112607, 20375313, 21396580, 21956908, 23315997, 25046119, 25663137, 27569544 -