Pulmonary fibrosis and/or bone marrow failure

Disease Term Disease ID Gene Symbol Classification References Source
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 C4225347 PARN Causal Pathogenic evidence from ClinVar 25848748, 25893599, 26116823, 26342108 ClinVar
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 C4225346 RTEL1 Causal Pathogenic evidence from ClinVar 19461895, 23329068, 23453664, 23959892, 24009516, 24582487, 25047097, 25099625, 25607374, 25620558, 25848748, 26025130, 26808564, 27128385, 27418648, 28099038, 28930861, 29146883 ClinVar
RBM8A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17236129 -
RTEL1-TNFRSF6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19461895, 23329068, 23453664, 23959892, 24009516, 25047097, 25099625, 25607374, 25620558, 26025130, 26808564, 27128385, 27418648, 28099038, 28930861 -
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 C3553622 TERC Causal Pathogenic evidence from ClinVar 12090986, 17392301, 27069254, 29483670 ClinVar
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 C3553617 TERT Causal Pathogenic evidence from ClinVar 15814878, 17392301, 17460043, 18042801, 21436073, 21483807, 22512499, 27069254 ClinVar