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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2017 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2 2017 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2017 2017
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.380 None 1.000 9 2 1999 2016
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 133 82 0.020 None 1.000 2 2009 2016
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.010 None 1.000 1 2016 2016
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2016 2016
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.010 None 1.000 1 2016 2016
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 2016 2016
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.120 None 1.000 2 2013 2015
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 1 0.510 strong 1.000 2 2014 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2015 2015
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.020 None 1.000 2 2 2007 2014
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 27 0.100 None 1.000 1 3 2014 2014
CUI: C0162839
Disease: Porokeratosis
Porokeratosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 11 0.110 None 1.000 1 2014 2014
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2014 2014
CUI: C1442958
Disease: Actinic porokeratosis
Actinic porokeratosis 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2014 2014
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2013 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 1994 2011
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 2011 2011
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 224 10 0.010 None 1.000 1 2011 2011
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2011 2011
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2010 2010
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2010 2010
CUI: C1858361
Disease: Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 		disease Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 21 7 0.010 None 1.000 1 2007 2007