SGSM3, small G protein signaling modulator 3, 27352

N. diseases: 259; N. variants: 17
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: C0947751
Disease: Vascular inflammations
Vascular inflammations 		phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.010 None 1.000 1 2017 2017
CUI: C1306557
Disease: Chronic venous insufficiency
Chronic venous insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 25 3 0.010 None 1.000 1 2009 2009
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2018 2018
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.010 None 1.000 1 2004 2004
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2017 2017
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2013 2013
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2013 2013
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.020 None 1.000 2 2007 2010
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.010 None 1.000 1 2010 2010
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.010 None 1.000 1 2010 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 1998 1998
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2015 2015
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 34 0.010 None 1.000 1 2019 2019
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2001 2001
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.010 None 1.000 1 2018 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 1 2016 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 50 24 0.010 None 1.000 1 2014 2014
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.020 None 1.000 2 1990 1992
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2020 2020
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 73 36 0.080 None 0.875 8 1 2007 2019
CUI: C0406810
Disease: Carney Complex
Carney Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2005 2005
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 13 21 0.010 None 1.000 1 1999 1999
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.010 None 1.000 1 1998 1998
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.020 None 1.000 2 2010 2011
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2003 2003