SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C1862683
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome 		0.300 CausalMutation disease CLINVAR
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.120 Biomarker disease HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.110 Biomarker disease HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.110 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		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: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO