Disease Term Disease ID Gene Symbol Classification References Source
Alstrom Syndrome C0268425 ALMS1 Causal Pathogenic evidence from ClinVar 9921899, 11941369, 11941370, 15689433, 16000322, 16720663, 17594715, 17850632, 18038714, 21071598, 21157496, 22447358, 22555271, 22773737, 22876109, 24462884, 25296579, 25706677, 25846608, 26010121, 26047050, 26104972, 26283575, 26992781, 27523285, 27665122, 28432734, 29079548 ClinVar
Alstr m syndrome 64 ALMS1 Causal Pathogenic evidence from ClinVar - ClinVar