PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
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: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		disease Disease or Syndrome 1 2 0.700 moderate 1.000 2 2 2015 2016
CUI: C1334768
Disease: Minor Salivary Gland Adenocarcinoma
Minor Salivary Gland Adenocarcinoma 		disease Neoplastic Process 1 1 0.010 None 1.000 1 2020 2020
CUI: C1335907
Disease: Polymorphous low grade adenocarcinoma of salivary gland
Polymorphous low grade adenocarcinoma of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 1 0.010 None 1.000 1 2014 2014
CUI: C0585265
Disease: Hypoglossal Nerve Palsy
Hypoglossal Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C3714744
Disease: Psychosexual dysfunction
Psychosexual dysfunction 		disease Mental Disorders Mental or Behavioral Dysfunction 3 4 0.100 None 1.000 1 1 2012 2012
CUI: C0751815
Disease: Carotid Artery, Internal, Dissection
Carotid Artery, Internal, Dissection 		disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C2317473
Disease: Chronic kidney disease stage 4
Chronic kidney disease stage 4 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease Nervous System Diseases Disease or Syndrome 14 6 0.030 None 1.000 3 1999 2012
CUI: C0334054
Disease: cystic disease
cystic disease 		disease Disease or Syndrome 19 0.020 None 1.000 2 2006 2019
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		disease Neoplastic Process 23 1 0.030 None 1.000 3 2014 2016
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 1 0.020 None 1.000 2 2006 2018
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 31 0.020 None 1.000 2 2008 2010
CUI: C0549622
Disease: Sexual Dysfunction
Sexual Dysfunction 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 36 12 0.100 None 1.000 1 1 2012 2012
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.010 None 1.000 1 2012 2012
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.010 None 1.000 1 2017 2017
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 134 0.030 None 1.000 3 2010 2016
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational 		disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.300 None 1.000 1 2017 2017
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		disease Nervous System Diseases Disease or Syndrome 44 6 0.010 None 1.000 1 2009 2009
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.030 None 1.000 3 1995 2010
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 2007 2007
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.030 None 0.667 3 2012 2018
CUI: C4083008
Disease: Guillain-Barre Syndrome, Familial
Guillain-Barre Syndrome, Familial 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 54 0.010 None 1.000 1 2019 2019
CUI: C2020625
Disease: Group B Streptococcal Infection
Group B Streptococcal Infection 		disease Infections Disease or Syndrome 55 0.010 None 1.000 1 2019 2019