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: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None < 0.001 1 2011 2011
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 2 0.010 None 1.000 1 1 2013 2013
CUI: C1861937
Disease: Anterior tibial bowing
Anterior tibial bowing 		phenotype Finding 1 0.100 None 0
CUI: C4024670
Disease: Poorly ossified cervical vertebrae
Poorly ossified cervical vertebrae 		phenotype Finding 1 0.100 None 0
CUI: C4025257
Disease: Shortening of all phalanges of the toes
Shortening of all phalanges of the toes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0432239
Disease: Kyphomelic dysplasia
Kyphomelic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2004 2004
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 4 0.110 None 1.000 1 4 2006 2006
CUI: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae 		phenotype Finding 2 0.100 None 0
CUI: C0025349
Disease: Menstruation, Retrograde
Menstruation, Retrograde 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C4521481
Disease: Pseudomyotonia (finding)
Pseudomyotonia (finding) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		phenotype Finding 3 0.100 None 0
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		disease Anatomical Abnormality 3 1 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: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0553647
Disease: calcifying aponeurotic fibroma
calcifying aponeurotic fibroma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C0578531
Disease: Skin dimple
Skin dimple 		phenotype Finding 5 1 0.100 None 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype Finding 5 1 0.100 None 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		phenotype Finding 5 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: C0795693
Disease: Skeletal malformation
Skeletal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality 6 0.090 None 0.889 9 1996 2017
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: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences 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 6 2 0.020 None 1.000 2 2012 2018
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 17 0.010 None 1.000 1 2008 2008
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 6 0.100 None 0