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: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Neoplastic Process 61 59 0.800 None 0.972 107 55 1994 2020
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: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.600 strong 0.971 34 2002 2020
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.400 None 0.962 26 2003 2020
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.400 None 0.900 10 2003 2018
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: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.300 moderate 1.000 6 2005 2015
CUI: C3549860
Disease: Uterine leiomyosarcoma (less common)
Uterine leiomyosarcoma (less common) 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 moderate 1.000 1 2005 2005
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: C3549861
Disease: Cutaneous leiomyosarcoma (less common)
Cutaneous leiomyosarcoma (less common) 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.300 strong 0
CUI: C0206695
Disease: Carcinoma, Neuroendocrine
Carcinoma, Neuroendocrine 		disease Neoplasms Neoplastic Process 182 7 0.300 strong 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.200 None 0.960 50 2002 2020
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.200 None 0.921 38 3 2001 2020
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: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.160 None 1.000 6 2003 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.150 None 1.000 75 63 1997 2019
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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.130 None 1.000 3 1 2010 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.120 None 1.000 2 1 2016 2018
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 71 0.120 None 1.000 2 2006 2006
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.110 None 1.000 1 2013 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 52 1994 2020