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: 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: 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: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.410 None 1.000 2 1999 2001
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.400 None 1.000 1 1999 1999
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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.320 None 1.000 3 1994 2011
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: C0162296
Disease: Polyarthralgia
Polyarthralgia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 1999 1999
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.300 strong 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.120 None 1.000 2 2013 2015
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
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: 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: 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: 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: 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: 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: 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: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0