SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease CTD_human
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 CausalMutation disease CLINVAR
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.500 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease HPO
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.410 Biomarker disease HPO
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.400 GenomicAlterations disease CGI
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.330 GenomicAlterations group CGI
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder) 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.200 Biomarker disease HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.190 Biomarker disease HPO
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.160 Biomarker disease HPO
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.140 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.110 Biomarker disease HPO
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.110 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO