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: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal
phenotype Finding 18 1 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C1846462
Disease: Impaired ocular abduction
Impaired ocular abduction
phenotype Finding 3 0.100 None 0
CUI: C1840089
Disease: Limited interphalangeal movement
Limited interphalangeal movement
phenotype Finding 2 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 strong 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.100 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 6 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1840088
Disease: Limited wrist movement
Limited wrist movement
phenotype Finding 3 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1840086
Disease: Pectoralis major hypoplasia
Pectoralis major hypoplasia
phenotype Finding 1 0.100 None 0
CUI: C1846463
Disease: Impaired ocular adduction
Impaired ocular adduction
phenotype Finding 2 0.100 None 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C1846478
Disease: Upper limb muscle hypoplasia
Upper limb muscle hypoplasia
phenotype Finding 1 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C1846477
Disease: Pectoralis hypoplasia
Pectoralis hypoplasia
phenotype Finding 2 0.100 None 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence
phenotype Finding 6 0.100 None 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones
phenotype Finding 3 0.100 None 0
Palpebral fissure narrowing on adduction
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 2 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
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
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0