SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
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: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.610 None 1.000 1 2007 2007
CUI: C1840086
Disease: Pectoralis major hypoplasia
Pectoralis major hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C1846478
Disease: Upper limb muscle hypoplasia
Upper limb muscle hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C1868170
Disease: Hypoplasia of deltoid muscle
Hypoplasia of deltoid muscle 		phenotype Finding 1 0.100 None 0
CUI: C0265239
Disease: Wildervanck's syndrome
Wildervanck's syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2018 2018
CUI: C1840089
Disease: Limited interphalangeal movement
Limited interphalangeal movement 		phenotype Finding 2 0.100 None 0
CUI: C1846463
Disease: Impaired ocular adduction
Impaired ocular adduction 		phenotype Finding 2 0.100 None 0
CUI: C1846465
Disease: Palpebral fissure narrowing on adduction
Palpebral fissure narrowing on adduction 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 2 0.100 None 0
CUI: C1846477
Disease: Pectoralis hypoplasia
Pectoralis hypoplasia 		phenotype Finding 2 0.100 None 0
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.500 None 1.000 5 2006 2018
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 13 0.300 None 1.000 2 2006 2018
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.300 None 1.000 2 2006 2018
CUI: C0265551
Disease: Dimelia
Dimelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.010 None 1.000 1 2013 2013
CUI: C1867616
Disease: Dermoid choristoma of eye proper
Dermoid choristoma of eye proper 		disease Eye Diseases Neoplastic Process 3 0.010 None 1.000 1 2008 2008
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement 		phenotype Finding 3 0.100 None 0
CUI: C1846462
Disease: Impaired ocular abduction
Impaired ocular abduction 		phenotype Finding 3 0.100 None 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		phenotype Finding 3 0.100 None 0
CUI: C4025414
Disease: Radial club hand
Radial club hand 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 11 1.000 None 1.000 21 11 1984 2019
CUI: C0271379
Disease: Convergence Insufficiency
Convergence Insufficiency 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 4 4 0.100 None 0
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		phenotype Musculoskeletal Diseases Finding 4 2 0.100 None 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		phenotype Finding 6 0.100 None 0
CUI: C1266090
Disease: Hepatoid adenocarcinoma
Hepatoid adenocarcinoma 		disease Neoplasms Neoplastic Process 7 0.020 None 1.000 2 2018 2019
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		phenotype Finding 7 0.100 None 0
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 8 3 0.030 None 1.000 3 2003 2018