STON1-GTF2A1L, STON1-GTF2A1L readthrough, 286749

N. diseases: 40; N. variants: 54
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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2017 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 1.000 2 9 2011 2012
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 21 0.100 None 0 19
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0 1
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 16 19 0.100 None 0 1
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 20 17 0.100 None 0 12
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		phenotype Endocrine System Diseases Finding 5 3 0.100 None 0 2
CUI: C2673497
Disease: Leydig Cell Hypoplasia, Type II
Leydig Cell Hypoplasia, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 2 0.100 None 0 2
CUI: C2674612
Disease: Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 3 1 0.100 None 0 1
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype Finding 3 1 0.100 None 0 1
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
Luteinizing Hormone Resistance, Female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 3 0.100 None 0 3
CUI: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
LEYDIG HYPOPLASIA, TYPE I 		disease Finding 3 1 0.100 None 0 1
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.030 None 1.000 3 2011 2019
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.020 None 1.000 2 2007 2014
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 146 349 0.020 None 1.000 2 2018 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C3850141
Disease: Acute-On-Chronic Liver Failure
Acute-On-Chronic Liver Failure 		disease Digestive System Diseases Disease or Syndrome 140 5 0.010 None 1.000 1 2018 2018
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2007 2007
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.010 None 1.000 1 2018 2018
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 2018 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2003 2003