Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1855538
Disease: Small face
Small face 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0578531
Disease: Skin dimple
Skin dimple 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0