RPH3A, rabphilin 3A, 22895

N. diseases: 25; N. variants: 12
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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 2 2018 2018
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 2 2018 2020
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C4522123
Disease: Nerve Growth Factor Measurement
Nerve Growth Factor Measurement
phenotype Laboratory Procedure 3 5 0.100 None 1.000 1 1 2017 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 1 2013 2013
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.100 None 1.000 1 2 2013 2013
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2011 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 1.000 1 1 2012 2012
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 105 21 0.020 None 1.000 2 2017 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2018 2018
CUI: C4054588
Disease: Lymphocytic Neurohypophysitis
Lymphocytic Neurohypophysitis
disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2011 2011
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases
group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 2018 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.010 None 1.000 1 2017 2017
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2004 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.010 None 1.000 1 2018 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2011 2011
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2007 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2008 2008