MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
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: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		disease Disease or Syndrome 1 4 0.700 None 1.000 1 4 2017 2017
CUI: C1150891
Disease: peptidylamidoglycolate lyase activity
peptidylamidoglycolate lyase activity 		phenotype Molecular Function 1 0.300 limited 0
CUI: C4551628
Disease: Opiate Abuse
Opiate Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 12 0.010 None 1.000 1 2004 2004
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		phenotype Nervous System Diseases Finding 14 9 0.100 None 1.000 1 3 2017 2017
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype Finding 14 24 0.100 None 1.000 1 2 2017 2017
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: 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
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: 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: C4293708
Disease: Recurrent paroxysmal headache
Recurrent paroxysmal headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		phenotype Finding 17 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: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		disease Neoplasms Neoplastic Process 19 7 0.100 None 0
CUI: C1857171
Disease: Episodic hyperhidrosis
Episodic hyperhidrosis 		phenotype Skin and Connective Tissue Diseases Finding 20 0.100 None 0
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 limited 1.000 1 2015 2015
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: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
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: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 38 5 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: 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