SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 1 0.030 None 0.667 3 2015 2015
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.370 None 0.875 8 1999 2015
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10 0.090 None 1.000 9 2011 2018
CUI: C0432470
Disease: 46, XY female
46, XY female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 25 5 0.030 None 1.000 3 2014 2019
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.300 None 1.000 1 2011 2011
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.030 None 1.000 3 1997 2013
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype Finding 44 0.100 None 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		phenotype Finding 5 0.100 None 0
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.690 None 1.000 12 3 2000 2018
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.010 None 1.000 1 2017 2017
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 94 37 0.010 None 1.000 1 2017 2017
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2018 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.030 None 1.000 3 2011 2018
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2013 2013
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.030 None 1.000 3 2010 2016