JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
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: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 91 28 0.020 None 1.000 2 1998 2004
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2008 2008
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 1976 1976
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency 		group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2016 2016
CUI: C1446219
Disease: Akinetic rigid syndrome
Akinetic rigid syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2014 2014
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.010 None 1.000 1 1996 1996
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 1996 1996
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2013 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 233 56 0.010 None 1.000 1 2003 2003
CUI: C3494652
Disease: Severe dementia
Severe dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 19 3 0.010 None 1.000 1 2012 2012
CUI: C3875011
Disease: Familial hyperalphalipoproteinemia
Familial hyperalphalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1976 1976
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.010 None 1.000 1 1993 1993
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 1996 1996
CUI: C1858114
Disease: HUNTINGTON DISEASE-LIKE 3 (disorder)
HUNTINGTON DISEASE-LIKE 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		phenotype Nutritional and Metabolic Diseases Sign or Symptom 55 3 0.010 None 1.000 1 2003 2003
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 76 3 0.010 None 1.000 1 2014 2014
CUI: C0376286
Disease: Avitaminosis
Avitaminosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2016 2016
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 88 11 0.010 None 1.000 1 2008 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2017 2017
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 19 32 0.010 None 1.000 1 1995 1995
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 1988 1988
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 1987 1987
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2014 2014