PSS, Potocki-Shaffer syndrome, 780904

N. diseases: 66; N. variants: 0
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: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.010 None 1.000 1 1991 1991
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.010 None < 0.001 1 2019 2019
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 1983 1983
CUI: C1853354
Disease: Peeling skin syndrome, acral type
Peeling skin syndrome, acral type 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2018 2018
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 1990 1990
CUI: C3160814
Disease: Cannabis use
Cannabis use 		disease Mental or Behavioral Dysfunction 74 44 0.010 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2014 2014
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0028734
Disease: Nocturia
Nocturia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 0.010 None 1.000 1 2019 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2017 2017
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 23 0.010 None 1.000 1 2017 2017
CUI: C0151293
Disease: Chronic Headache
Chronic Headache 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 1988 1988
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C4531100
Disease: Negative affectivity
Negative affectivity 		disease Mental or Behavioral Dysfunction 17 8 0.010 None 1.000 1 2019 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2017 2017
CUI: C0815107
Disease: psychological distress
psychological distress 		disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2020 2020
CUI: C0342527
Disease: Deficiency of testosterone biosynthesis
Deficiency of testosterone biosynthesis 		disease Endocrine System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C0871099
Disease: positive and negative symptoms
positive and negative symptoms 		phenotype Sign or Symptom 18 5 0.010 None 1.000 1 2017 2017
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2019 2019
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2017 2017
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2017 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group Respiratory Tract Diseases Disease or Syndrome 319 144 0.010 None 1.000 1 2017 2017
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		disease Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 257 20 0.010 None 1.000 1 2020 2020