MLC1, modulator of VRAC current 1, 23209

N. diseases: 87; N. variants: 45
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.
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases Congenital Abnormality 24 46 1.000 strong 0.963 54 42 2001 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.390 None 0.500 9 3 2002 2015
CUI: C0036344
Disease: Schizophrenia, Catatonic
Schizophrenia, Catatonic
disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.340 None 0.500 5 1 2002 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None 0.500 2 2 2005 2007
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.310 None 1.000 1 2 2005 2005
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 48 7 0.310 None 1.000 1 2007 2007
Malignant neoplasm of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.300 None 1.000 1 2006 2006
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 strong 1.000 1 2018 2018
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.300 None 1.000 1 2006 2006
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.300 strong 1.000 1 2018 2018
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.300 None 1.000 1 2017 2017
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.140 None 1.000 4 2011 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
Central nervous system demyelination
disease Disease or Syndrome 52 3 0.100 None 0 1
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 0 1
Diffuse spongiform leukoencephalopathy
phenotype Nervous System Diseases Finding 3 0.100 None 0
Diffuse swelling of cerebral white matter
phenotype Pathological Conditions, Signs and Symptoms Finding 2 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.100 None 0 1
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0