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: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0 1
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
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
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: C0344724
Disease: Ostium secundum atrial septal defect
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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.892 37 1 2000 2020
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.060 None 0.833 6 1 2003 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
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.050 None 1.000 5 2017 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.040 None 1.000 4 1990 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.330 None 1.000 3 1997 2017
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.030 None 1.000 3 2014 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 0.500 2 2014 2014
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease Immune System Diseases Disease or Syndrome 447 25 0.020 None 1.000 2 2008 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.020 None 1.000 2 2012 2014
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 122 79 0.020 None 1.000 2 2000 2003
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 160 6 0.020 None 1.000 2 2003 2017
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: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None < 0.001 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2017 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2019 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.010 None 1.000 1 2017 2017