Source: CLINVAR

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: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		disease 0.800 None 0.972 0 48 1994 2020
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		disease 0.740 None 1.000 54 89 1990 2019
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group 0.200 None 0.921 0 2 2001 2020
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		disease 0.180 None 1.000 0 2 2001 2018
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 70 63 1997 2019
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 0.130 None 1.000 0 1 2010 2019
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.120 None 1.000 0 1 2016 2018