SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 0
CUI: C4021236
Disease: 2-4 finger syndactyly
2-4 finger syndactyly
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly
phenotype Finding 4 1 0.100 None 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly
phenotype Finding 4 1 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 28 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
disease Finding 40 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype Finding 34 0.300 strong 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe
phenotype Finding 2 0.100 None 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 53 4 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2018 2018
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.010 None 1.000 1 2017 2017
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
phenotype Finding 6 0.100 None 0
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia
disease Congenital Abnormality 8 0.010 None 1.000 1 2017 2017
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.010 None 1.000 1 2006 2006