Disease Term Disease ID Gene Symbol Classification References Source
Myotubular Myopathy with Abnormal Genital Development C1846169 MAMLD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9169146, 26580071 -
MTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8789451 -
X-linked myotubular myopathy-abnormal genitalia syndrome 456328 MAMLD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -