PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2020 2020
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2015 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2008 2008
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2017 2017
CUI: C3714514
Disease: Infection
Infection 		group Infections Pathologic Function 491 0.300 None 1.000 1 2006 2006
CUI: C3494248
Disease: Organothiophosphate Poisoning
Organothiophosphate Poisoning 		disease Chemically-Induced Disorders Injury or Poisoning 4 0.300 None 1.000 1 2013 2013
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 59 9 0.010 None 1.000 1 2017 2017
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.400 None 1.000 1 2006 2006
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 1983 1983
CUI: C3494247
Disease: Organothiophosphonate Poisoning
Organothiophosphonate Poisoning 		disease Chemically-Induced Disorders Injury or Poisoning 4 0.300 None 1.000 1 2013 2013
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease Stomatognathic Diseases Disease or Syndrome 80 22 0.010 None 1.000 1 2020 2020
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C1265776
Disease: Diffuse telangiectasis
Diffuse telangiectasis 		phenotype Cardiovascular Diseases Finding 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.200 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C0581366
Disease: Recurrent cystitis
Recurrent cystitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0