RNF213, ring finger protein 213, 57674

N. diseases: 59; N. variants: 17
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: C1846689
Disease: MOYAMOYA DISEASE 2
MOYAMOYA DISEASE 2 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 6 0.600 None 1.000 9 6 2011 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.500 None 0.953 86 9 2011 2020
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.500 None 0.962 80 7 2011 2020
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.100 None 0.917 12 1 2015 2020
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 1.000 2 2 2016 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 233 56 0.060 None 1.000 6 1 2015 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.030 None 1.000 3 1 2016 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.030 None 1.000 3 2 2017 2019
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 2 0.030 None 1.000 3 2016 2019
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.020 None 0.500 2 2015 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 1 2016 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 1 2016 2018
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.020 None 0.500 2 2 2016 2018
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.020 None 1.000 2 2019 2020
CUI: C0751635
Disease: Common Carotid Artery Stenosis
Common Carotid Artery Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 40 23 0.010 None 1.000 1 1 2018 2018
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Congenital Abnormality 18 9 0.010 None 1.000 1 2016 2016
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2016 2016