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: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 0
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 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: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 0.100 None 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 0
CUI: C4021236
Disease: 2-4 finger syndactyly
2-4 finger syndactyly 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 13 4 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C4048833
Disease: Satyr ear
Satyr ear 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype Diagnostic Procedure 84 0.300 limited 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease Finding 40 0.100 None 0
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype Finding 10 7 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: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 46 7 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype Finding 34 5 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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0