CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
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: C0749133
Disease: Active suicidal ideation
Active suicidal ideation 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2017 2017
CUI: C0221237
Disease: Angular cheilitis
Angular cheilitis 		disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		disease Disease or Syndrome 3 3 0.720 strong 1.000 2 3 2015 2019
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 2015 2015
CUI: C0521686
Disease: Glaucomatous retinal degeneration
Glaucomatous retinal degeneration 		disease Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C0037999
Disease: Splenic Neoplasms
Splenic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 6 0.010 None 1.000 1 2017 2017
CUI: C0683362
Disease: parental alcoholism
parental alcoholism 		phenotype Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2012 2012
CUI: C4285706
Disease: Post cardiac arrest syndrome
Post cardiac arrest syndrome 		disease Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0240182
Disease: Leukonychia
Leukonychia 		phenotype Skin and Connective Tissue Diseases Finding 9 0.100 None 0
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction 		phenotype Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2016 2016
CUI: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0006868
Disease: Cannabis Abuse
Cannabis Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 19 8 0.010 None 1.000 1 2017 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2019 2019
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 2016 2016
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0002020
Disease: Alexithymia
Alexithymia 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 39 12 0.010 None 1.000 1 2012 2012
CUI: C0037354
Disease: Smallpox
Smallpox 		disease Infections Disease or Syndrome 39 0.010 None 1.000 1 2020 2020
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2017 2017
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2017 2017
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2013 2013
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2013 2013
CUI: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.010 None 1.000 1 2015 2015
CUI: C0278480
Disease: Stage III Colon Cancer
Stage III Colon Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 3 0.010 None 1.000 1 2013 2013
CUI: C0234233
Disease: Sore to touch
Sore to touch 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.100 None 1.000 11 5 1996 2018