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: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 6 0.600 None 1.000 6 6 1999 2015
CUI: C1862683
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.300 None 1.000 2 1 2003 2008
CUI: C1862693
Disease: Pseudoepiphyses of second metacarpal
Pseudoepiphyses of second metacarpal 		phenotype Finding 1 0.100 None 0
CUI: C4021236
Disease: 2-4 finger syndactyly
2-4 finger syndactyly 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4048833
Disease: Satyr ear
Satyr ear 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0026069
Disease: Middle Lobe Syndrome
Middle Lobe Syndrome 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0541633
Disease: Nephrosis and Glomerulosclerosis
Nephrosis and Glomerulosclerosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C1862689
Disease: Stahl ear
Stahl ear 		disease Congenital Abnormality 2 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: C1867616
Disease: Dermoid choristoma of eye proper
Dermoid choristoma of eye proper 		disease Eye Diseases Neoplastic Process 3 0.020 None 1.000 2 2007 2008
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 9 0.900 strong 0.929 28 8 1998 2018
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		phenotype Finding 4 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: C1862697
Disease: Metatarsal synostosis
Metatarsal synostosis 		phenotype Finding 4 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: 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: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 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: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		disease Anatomical Abnormality 12 1 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: 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
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0