CCM2, CCM2 scaffold protein, 83605

N. diseases: 50; N. variants: 20
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: C0752160
Disease: Hemangioma, Cavernous, Central Nervous System
Hemangioma, Cavernous, Central Nervous System 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 1.000 1 2007 2007
CUI: C0752161
Disease: Cavernous Hemangioma, Extracerebral
Cavernous Hemangioma, Extracerebral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 1.000 1 2007 2007
CUI: C0752164
Disease: Cavernous Hemangioma, Intracerebral
Cavernous Hemangioma, Intracerebral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 1.000 1 2007 2007
CUI: C1140710
Disease: Cerebral Cavernous Hemangioma
Cerebral Cavernous Hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 1.000 1 2007 2007
CUI: C1956260
Disease: Cavernous Angioma, Central Nervous System
Cavernous Angioma, Central Nervous System 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 2 0.300 None 1.000 1 2007 2007
CUI: C0478007
Disease: Other malformations of cerebral vessels
Other malformations of cerebral vessels 		disease Congenital Abnormality 2 0.200 None 0
CUI: C2910157
Disease: Nonruptured congenital cerebral aneurysm
Nonruptured congenital cerebral aneurysm 		disease Disease or Syndrome; Congenital Abnormality 2 0.200 None 0
CUI: C2910158
Disease: Congenital malformation of cerebral vessels NOS
Congenital malformation of cerebral vessels NOS 		disease Congenital Abnormality 2 0.200 None 0
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		disease Disease or Syndrome 3 7 0.300 strong 1.000 1 2003 2003
CUI: C0730304
Disease: Cavernous hemangioma of retina
Cavernous hemangioma of retina 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 3 0.100 None 0
CUI: C4022747
Disease: Focal T2 hypointense brainstem lesion
Focal T2 hypointense brainstem lesion 		phenotype Finding 3 0.100 None 0
CUI: C1864041
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 2
CEREBRAL CAVERNOUS MALFORMATIONS 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 16 1.000 strong 1.000 23 16 1988 2019
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 4 1 0.220 None 1.000 2 2017 2017
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 2 0.100 None 0
CUI: C1956261
Disease: Cerebral Venous Angioma
Cerebral Venous Angioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 4 0.200 None 0
CUI: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1 		disease Disease or Syndrome 5 7 0.040 None 1.000 4 2004 2019
CUI: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		phenotype Nervous System Diseases Finding 7 0.100 None 0
CUI: C1959589
Disease: Angioma, Cavernous
Angioma, Cavernous 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 9 0.020 None 1.000 2 2015 2019
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		group Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.100 None 0
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 15 9 0.100 None 1.000 10 2007 2019
CUI: C0027858
Disease: Neuroma
Neuroma 		disease Neoplasms Neoplastic Process 15 0.100 None 0
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 16 92 0.010 None 1.000 1 2017 2017
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype Finding 33 2 0.100 None 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 36 4 0.110 None 1.000 1 1 2019 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.100 None 0