SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 GeneticVariation disease CLINVAR
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease CTD_human
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease CTD_human
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.460 Biomarker disease HPO
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.420 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.200 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.170 Biomarker disease HPO
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.150 Biomarker disease HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.150 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.110 Biomarker disease HPO
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		0.100 Biomarker disease HPO
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO