IMPA1, inositol monophosphatase 1, 3612

N. diseases: 81; N. variants: 0
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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
disease Disease or Syndrome 1 0.300 None 0
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 9 0.010 None 1.000 1 2006 2006
CUI: C0151773
Disease: Bone marrow depression
Bone marrow depression
disease Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2018 2018
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections
group Infections Disease or Syndrome 16 1 0.010 None 1.000 1 2002 2002
CUI: C0549393
Disease: Alcohol problem
Alcohol problem
phenotype Mental or Behavioral Dysfunction 23 5 0.010 None 1.000 1 2009 2009
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection
group Infections Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C1456784
Disease: Paranoia
Paranoia
disease Mental Disorders Mental or Behavioral Dysfunction 35 5 0.100 None 0
CUI: C0010418
Disease: Cryptosporidiosis
Cryptosporidiosis
disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 40 0.010 None 1.000 1 2014 2014
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
group Mental Disorders Mental or Behavioral Dysfunction 49 8 0.010 None 1.000 1 2018 2018
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 49 7 0.010 None 1.000 1 2015 2015
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.010 None 1.000 1 2018 2018
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
disease Eye Diseases Disease or Syndrome 82 1 0.010 None 1.000 1 2017 2017
CUI: C0026946
Disease: Mycoses
Mycoses
group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2019 2019
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2008 2008
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2008 2008
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2008 2008
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2008 2008
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2008 2008
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2008 2008