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: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 16 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: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.100 None 0
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 19 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine 		phenotype Finding 14 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		phenotype Finding 17 0.100 None 0
CUI: C2675973
Disease: Open operculum
Open operculum 		phenotype Finding 3 0.100 None 0
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 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: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis 		phenotype Neoplasms Finding 15 0.100 None 0
CUI: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine 		phenotype Finding 15 0.100 None 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test 		phenotype Finding 15 0.100 None 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine 		phenotype Finding 15 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype Finding 21 1 0.100 None 0
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 15 1 0.100 None 0
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 0.100 None 0
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 38 5 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0