CNTN2, contactin 2, 6900

N. diseases: 99; N. variants: 14
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: C3809374
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 		disease Disease or Syndrome 1 1 0.600 None 0 1
CUI: C0751919
Disease: Acquired Neuromyotonia
Acquired Neuromyotonia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1832841
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2013 2013
CUI: C1850765
Disease: Visual auras
Visual auras 		disease Nervous System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0242338
Disease: HTLV Infections
HTLV Infections 		group Infections; Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2012 2012
CUI: C0024054
Disease: Lown-Ganong-Levine Syndrome
Lown-Ganong-Levine Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 9 0.010 None 1.000 1 2009 2009
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.010 None 1.000 1 2018 2018
CUI: C0393847
Disease: Multifocal motor neuropathy
Multifocal motor neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 13 0.010 None < 0.001 1 2011 2011
CUI: C0375019
Disease: Human T-cell lymphotrophic virus, type I [HTLV-I]
Human T-cell lymphotrophic virus, type I [HTLV-I] 		disease Disease or Syndrome 25 0.010 None 1.000 1 2012 2012
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C1955861
Disease: T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocyte Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 35 4 0.010 None 1.000 1 2013 2013
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 49 2 0.100 None 0
CUI: C0338474
Disease: Central nervous system demyelination
Central nervous system demyelination 		disease Disease or Syndrome 52 3 0.010 None 1.000 1 2018 2018
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 64 8 0.010 None 1.000 1 2019 2019
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 82 4 0.030 None 1.000 3 1 2009 2012
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases 		group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 1996 1996
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 1996 1996
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 84 1 0.010 None 1.000 1 2017 2017
CUI: C0030481
Disease: Tropical Spastic Paraparesis
Tropical Spastic Paraparesis 		disease Infections; Nervous System Diseases Disease or Syndrome 88 4 0.080 None 1.000 8 1993 2010
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.030 None 1.000 3 2008 2019
CUI: C0279592
Disease: Adult T Acute Lymphoblastic Leukemia
Adult T Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 102 1 0.200 None 0
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 2001 2001
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.010 None 1.000 1 1996 1996
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections 		group Infections; Immune System Diseases Disease or Syndrome 134 5 0.050 None 1.000 5 1990 2013
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.010 None 1.000 1 1996 1996