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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.971 34 2004 2020
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.100 None 0.931 29 2003 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.964 28 2006 2020
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 413 14 0.100 None 0.913 23 1 2002 2019
CUI: C0206654
Disease: Leiomyomatosis
Leiomyomatosis 		disease Neoplasms Neoplastic Process 21 0.100 None 1.000 21 2002 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 13 2003 2020
CUI: C1333001
Disease: Childhood Renal Cell Carcinoma
Childhood Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 107 10 0.100 None 1.000 10 2002 2016
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 29 5 0.100 None 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis 		phenotype Neoplasms Finding 15 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C4293708
Disease: Recurrent paroxysmal headache
Recurrent paroxysmal headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine 		phenotype Finding 15 0.100 None 0
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 13 0.100 None 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test 		phenotype Finding 15 0.100 None 0
CUI: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine 		phenotype Finding 15 0.100 None 0