CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
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: C0730291
Disease: Choroidal dystrophy
Choroidal dystrophy 		disease Disease or Syndrome 1 0.010 None 1.000 1 1987 1987
CUI: C0265097
Disease: Basilar Artery Stenosis
Basilar Artery Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2017 2017
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2017 2017
CUI: C0154946
Disease: Acute angle-closure glaucoma
Acute angle-closure glaucoma 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2018 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.010 None 1.000 1 2019 2019
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2001 2001
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 1999 1999
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2019 2019
CUI: C1412004
Disease: Tumor of the Pineal Region
Tumor of the Pineal Region 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 2 0.010 None 1.000 1 1997 1997
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2006 2006
CUI: C0271214
Disease: Central blindness
Central blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1989 1989
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2013 2013
CUI: C0339383
Disease: Choroidal and/or chorioretinal disorder
Choroidal and/or chorioretinal disorder 		disease Eye Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2017 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2003 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2017 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 46 0.010 None 1.000 1 2012 2012
CUI: C0855111
Disease: Diffuse large B-cell lymphoma recurrent
Diffuse large B-cell lymphoma recurrent 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2018 2018