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.
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 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
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: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.100 None 0 1
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: C1858855
Disease: Diffuse swelling of cerebral white matter
Diffuse swelling of cerebral white matter 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 0.100 None 0
CUI: C1858857
Disease: Diffuse spongiform leukoencephalopathy
Diffuse spongiform leukoencephalopathy 		phenotype Nervous System Diseases Finding 3 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: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 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
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 79 4 0.010 None 1.000 1 1976 1976
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 1977 1977
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 22 0.010 None 1.000 1 1977 1977
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 1979 1979
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.010 None 1.000 1 1979 1979
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 1980 2011
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease Immune System Diseases Disease or Syndrome 447 25 0.010 None 1.000 1 1985 1985
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 70 4 0.020 None 1.000 2 1986 1987
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 1987 1987
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.060 None 1.000 6 2000 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.050 None 0.800 5 2000 2019
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 2001 2019