Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease 0.700 None 1.000 4 0 2001 2019
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		disease 0.600 strong 1.000 3 0 2002 2018
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		disease 0.400 None 1.000 4 0 2001 2012
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		disease 0.310 moderate 1.000 1 0 2003 2003
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C1851850
Disease: Ectodermal dysplasia adrenal cyst
Ectodermal dysplasia adrenal cyst 		phenotype 0.300 strong 1.000 1 0 2002 2002