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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 Biomarker disease HPO
CUI: C4021236
Disease: 2-4 finger syndactyly
2-4 finger syndactyly
0.100 Biomarker phenotype HPO
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly
0.100 Biomarker phenotype HPO
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
0.100 Biomarker phenotype HPO
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
0.100 Biomarker phenotype HPO
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
0.100 Biomarker disease HPO
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.100 Biomarker disease HPO
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus
0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
0.100 Biomarker phenotype HPO
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe
0.100 Biomarker phenotype HPO
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 Biomarker group HPO
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
0.010 AlteredExpression disease BEFREE We demonstrated that SALL1 functions as a tumor suppressor in breast cancer, which is significantly down-regulated in the basal like breast cancer and in estrogen receptor (ER), progesterone receptor (PR) and epidermal growth factor receptor 2 (HER2) triple negative breast cancer patients. 29625565 2018
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
0.010 Biomarker disease BEFREE TBS (Vex excluded) values decreased steadily with age with an overall loss of 8.99% between 52.5 and 77.5 years. 27900426 2017
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
0.100 Biomarker disease HPO
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
0.100 Biomarker phenotype HPO
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia
0.010 Biomarker disease BEFREE Disruption of Sall1-NuRD <i>in vivo</i> in knock-in mice (Δ<i>SRM</i>) resulted in accelerated differentiation of nephron progenitors and bilateral renal hypoplasia. 28760814 2017
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
0.100 Biomarker disease HPO
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome
0.010 Biomarker disease BEFREE Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). 16971658 2006