MVK, mevalonate kinase, 4598

N. diseases: 139; N. variants: 57
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: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 33 0.800 None 1.000 59 32 1997 2019
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 29 0.800 None 1.000 48 24 1992 2019
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 23 0.700 strong 0.979 47 13 1992 2019
CUI: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 6 0.100 None 1.000 13 3 1999 2019
CUI: C0265970
Disease: Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 1 0.370 None 1.000 9 2012 2019
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.340 strong 1.000 5 2003 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 7 0.030 None 1.000 3 2003 2019
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.030 None 1.000 3 2004 2019
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.020 None 1.000 2 2007 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.020 None 1.000 2 2016 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 48 0.010 None 1.000 1 2019 2019
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.020 None 1.000 2 3 2005 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0276871
Disease: Infection by Trypanosoma evansi
Infection by Trypanosoma evansi 		disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.010 None 1.000 1 2018 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2018 2018
CUI: C1867981
Disease: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 16 0.700 strong 1.000 29 16 1997 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2 2016 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.020 None 1.000 2 1 2013 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2004 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.020 None 1.000 2 1 2016 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 1 2016 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2017 2017