SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		1.000 Biomarker disease CTD_human
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		1.000 GeneticVariation disease CLINVAR
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		1.000 CausalMutation disease CLINVAR
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		0.690 CausalMutation disease CLINVAR
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		0.690 Biomarker disease CTD_human
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker disease HPO
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		0.400 Biomarker disease HPO
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.130 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.130 Biomarker disease HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.120 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.110 Biomarker group HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		0.110 Biomarker disease HPO
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 		0.110 CausalMutation disease CLINVAR
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO