Telomere-related pulmonary fibrosis and/or bone marrow failure

Disease Term Disease ID Gene Symbol Classification References Source
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
C3553617614742OMIM:614742
RTEL1 Unknown — Disgenet
TERT Unknown — CTD Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
616373C4225346OMIM:616373
RTEL1 Unknown — CTD Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4
616371C4225347OMIM:616371
PARN Unknown — CTD Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5
618674C5231457
ZCCHC8 Unknown — Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
619767C5676927
RPA1 Unknown — Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
620365C5830485MONDO:0957261
NAF1 Causal
27510903 34933798 36028256
ClinGen ClinVar Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8
620367C5830496MONDO:0957263
POT1 Causal
37215005 37466057
ClinVar Disgenet GWAS catalog HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9
620400C5830560MONDO:0957294
NOP10 Unknown
1902465 35078193
ClinGen ClinVar Disgenet HPO
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
MONDO:0013878
TERT Causal — ClinVar GenCC
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
MONDO:0014613
RTEL1 Causal — ClinGen ClinVar GenCC
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
MONDO:0014612
PARN Causal
25848748 25893599 26342108 26482878 30525901 31273937 31448843 34479523
ClinGen ClinVar GWAS catalog
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5
MONDO:0032865
ZCCHC8 Causal
24309898 31488579 38375433
ClinGen ClinVar GWAS catalog
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6
MONDO:0030690
RPA1 Causal
34767620
ClinVar Orphanet