MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0393983
Disease: Hernia of cerebellar tonsil into foramen magnum
Hernia of cerebellar tonsil into foramen magnum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0162839
Disease: Porokeratosis
Porokeratosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 11 0.120 None 1.000 2 2017 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2003 2003
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.030 None 1.000 3 2018 2019
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		disease Disease or Syndrome 1 8 0.700 strong 1.000 3 8 2008 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2010 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2010 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.020 None 1.000 2 2011 2013
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.020 None 1.000 2 2006 2006
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 107 1 0.020 None 1.000 2 2017 2018
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 0.310 None 1.000 2 2015 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 0.320 moderate 1.000 2 2019 2019
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 0.020 None 1.000 2 2017 2019
CUI: C4087310
Disease: Neurovascular conflict
Neurovascular conflict 		disease Disease or Syndrome 2 0.020 None 1.000 2 2017 2018
CUI: C0006145
Disease: Breast Diseases
Breast Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 73 6 0.010 None 1.000 1 2014 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2011 2011
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2006 2006
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 1993 1993
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2015 2015
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 2019 2019
CUI: C0242006
Disease: Myelofibrosis due to another disorder
Myelofibrosis due to another disorder 		disease Disease or Syndrome 23 6 0.010 None 1.000 1 2006 2006
CUI: C0242723
Disease: Parasitemia
Parasitemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 140 3 0.010 None 1.000 1 1993 1993
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2006 2006
CUI: C0340288
Disease: Stable angina
Stable angina 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 144 8 0.010 None 1.000 1 2017 2017