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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.010 None 1.000 1 2019 2019
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1
disease Disease or Syndrome 66 14 0.010 None 1.000 1 2019 2019
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
phenotype Finding 65 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0 1
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.030 None 1.000 3 2011 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.030 None 1.000 3 2011 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2009 2009
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 2005 2005
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: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.010 None 1.000 1 2019 2019
Ostium secundum atrial septal defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2019 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 41 15 1.000 None 0.965 85 15 1987 2020
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.440 strong 1.000 5 1 2008 2019
Autosomal dominant retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2011 2011
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 2019 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 2002 2002
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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2017 2017