FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 2 0.180 None 1.000 8 2 2001 2018
CUI: C0346067
Disease: Cutaneous Leiomyosarcoma
Cutaneous Leiomyosarcoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 2008 2008
CUI: C3549860
Disease: Uterine leiomyosarcoma (less common)
Uterine leiomyosarcoma (less common) 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C3549861
Disease: Cutaneous leiomyosarcoma (less common)
Cutaneous leiomyosarcoma (less common) 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C3549862
Disease: Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C4087475
Disease: Reed syndrome
Reed syndrome 		disease Neoplastic Process 1 0.010 None 1.000 1 2010 2010
CUI: C1853903
Disease: Decreased fumarate hydratase activity
Decreased fumarate hydratase activity 		phenotype Finding 1 0.100 None 0
CUI: C0346172
Disease: Mucinous cystadenoma of ovary
Mucinous cystadenoma of ovary 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2006 2006
CUI: C2936826
Disease: Fumaric aciduria
Fumaric aciduria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.310 None 1.000 1 2013 2013
CUI: C0334478
Disease: Bizarre leiomyoma
Bizarre leiomyoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2016 2016
CUI: C2675973
Disease: Open operculum
Open operculum 		phenotype Finding 3 0.100 None 0
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 90 0.740 None 1.000 57 90 1990 2019
CUI: C0854868
Disease: Non-Hodgkin's lymphoma transformed recurrent
Non-Hodgkin's lymphoma transformed recurrent 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0879257
Disease: Hereditary Papillary Renal Carcinoma
Hereditary Papillary Renal Carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 1 0.010 None 1.000 1 2015 2015
CUI: C1336840
Disease: Papillary renal cell carcinoma type 2
Papillary renal cell carcinoma type 2 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 6 0.140 None 1.000 4 2011 2018
CUI: C0855138
Disease: Mantle cell lymphoma refractory
Mantle cell lymphoma refractory 		disease Neoplastic Process 6 0.010 None 1.000 1 2017 2017
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 7 3 0.100 None 0
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2020 2020
CUI: C0476486
Disease: Generalized enlarged lymph nodes
Generalized enlarged lymph nodes 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2002 2002
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 13 0.100 None 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine 		phenotype Finding 14 0.100 None 0
CUI: C0010635
Disease: Cystadenoma, Mucinous
Cystadenoma, Mucinous 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2006 2006
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 15 1 0.100 None 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis 		phenotype Neoplasms Finding 15 0.100 None 0