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: C1446219
Disease: Akinetic rigid syndrome
Akinetic rigid syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
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: 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: C1858116
Disease: Caudate atrophy
Caudate atrophy
phenotype Finding 6 0.100 None 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit
phenotype Finding 10 1 0.100 None 0
Headache associated with sexual activity
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 14 0.010 None 1.000 1 2015 2015
CUI: C0422895
Disease: Primitive reflex
Primitive reflex
phenotype Finding 14 0.100 None 0
Primitive reflexes (palmomental, snout, glabellar)
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C0376286
Disease: Avitaminosis
Avitaminosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2016 2016
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: 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: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.800 limited 1.000 14 1 2001 2020
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: 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: 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: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.010 None 1.000 1 2018 2018
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 1991 1991
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: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 5 0.030 None 1.000 3 2003 2018
CUI: C0302314
Disease: Xanthoma
Xanthoma
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.010 None 1.000 1 1995 1995
CUI: C0240735
Disease: Personality Change
Personality Change
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 6 0.100 None 0
Serum gamma-glutamyl transferase measurement
phenotype Laboratory Procedure 54 108 0.100 None 1.000 1 1 2019 2019
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: C0011253
Disease: Delusions
Delusions
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.100 None 0
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