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: 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: C4087310
Disease: Neurovascular conflict
Neurovascular conflict
disease Disease or Syndrome 2 0.020 None 1.000 2 2017 2018
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
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: C0751572
Disease: Vertebrobasilar Dolichoectasia
Vertebrobasilar Dolichoectasia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0524812
Disease: Intracranial Hypotension
Intracranial Hypotension
disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
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: C0001546
Disease: Adjustment Disorders
Adjustment Disorders
group Mental Disorders Mental or Behavioral Dysfunction 9 4 0.010 None 1.000 1 2009 2009
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: C0028643
Disease: Numbness
Numbness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 12 2 0.010 None 1.000 1 2017 2017
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: 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
Myelofibrosis due to another disorder
disease Disease or Syndrome 23 6 0.010 None 1.000 1 2006 2006
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes
disease Hemic and Lymphatic Diseases Neoplastic Process 27 4 0.010 None 1.000 1 2006 2006
CUI: C0030436
Disease: Parakeratosis
Parakeratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0031572
Disease: Phobia, Social
Phobia, Social
disease Mental Disorders Mental or Behavioral Dysfunction 33 8 0.010 None 1.000 1 2019 2019
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2019 2019
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: 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: C0815107
Disease: psychological distress
psychological distress
disease Mental or Behavioral Dysfunction 87 10 0.020 None 1.000 2 2019 2019
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.010 None 1.000 1 2019 2019
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
Low Grade Squamous Intraepithelial Neoplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 94 2 0.010 None 1.000 1 2004 2004
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: 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