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: 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: 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: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.020 None 1.000 2 2011 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.020 None 1.000 2 2009 2012
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.020 None 1.000 2 2009 2012
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		disease Neoplasms Neoplastic Process 73 2 0.020 None 1.000 2 2009 2009
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: 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: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.020 None 1.000 2 2009 2012
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2009 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 1 2018 2018
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2009 2009
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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2018 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2009 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2009 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2009 2009
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: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.100 None 0