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: C1840088
Disease: Limited wrist movement
Limited wrist movement 		phenotype Finding 3 0.100 None 0
CUI: C1840089
Disease: Limited interphalangeal movement
Limited interphalangeal movement 		phenotype Finding 2 0.100 None 0
CUI: C1846462
Disease: Impaired ocular abduction
Impaired ocular abduction 		phenotype Finding 3 0.100 None 0
CUI: C1846463
Disease: Impaired ocular adduction
Impaired ocular adduction 		phenotype Finding 2 0.100 None 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		phenotype Finding 3 0.100 None 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		phenotype Finding 6 0.100 None 0
CUI: C1846477
Disease: Pectoralis hypoplasia
Pectoralis hypoplasia 		phenotype Finding 2 0.100 None 0
CUI: C1846478
Disease: Upper limb muscle hypoplasia
Upper limb muscle hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 0
CUI: C1849955
Disease: Limited elbow movement
Limited elbow movement 		phenotype Finding 13 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype Congenital Abnormality 19 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		phenotype Finding 7 0.100 None 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype Finding 10 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype Finding 23 0.100 None 0
CUI: C1868170
Disease: Hypoplasia of deltoid muscle
Hypoplasia of deltoid muscle 		phenotype Finding 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		disease Congenital Abnormality 15 2 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C4025414
Disease: Radial club hand
Radial club hand 		disease Congenital Abnormality 3 0.100 None 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 0.100 None 0