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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		0.100 Biomarker disease HPO
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		0.100 Biomarker phenotype HPO
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		0.100 Biomarker disease HPO
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		0.100 Biomarker disease HPO
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 Biomarker disease HPO
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		0.100 Biomarker phenotype HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO