Source: INFERRED

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: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease 1.000 strong 0.972 0 11 1994 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		disease 0.690 None 1.000 0 3 2000 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.420 strong 1.000 0 0 2001 2013
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease 0.400 None 1.000 0 0 2011 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.130 None 1.000 0 0 2013 2017
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease 0.130 None 0.667 0 0 1997 2019
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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		disease 0.110 None < 0.001 0 0 2007 2007
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		disease 0.110 None 1.000 0 4 2006 2006
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 11 1 1995 2018
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: 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: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		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: 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: 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