TONSL, tonsoku like, DNA repair protein, 4796

N. diseases: 67; N. variants: 1
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.
Spondyloepimetaphyseal dysplasia, sponastrime type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.320 None 1.000 2 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.310 None 1.000 2 2017 2019
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2011 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.300 None 1.000 1 2011 2011
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
phenotype Anatomical Abnormality 86 0.100 None 0
Intellectual disability, progressive
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis
phenotype Finding 11 0.100 None 0
Delayed ossification of carpal bones
phenotype Finding 12 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 34 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis
phenotype Musculoskeletal Diseases Finding 21 4 0.100 None 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0
CUI: C1849079
Disease: Lumbar interpedicular narrowing
Lumbar interpedicular narrowing
phenotype Finding 1 0.100 None 0
CUI: C1849081
Disease: Metaphyseal striations
Metaphyseal striations
phenotype Finding 2 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype Finding 181 12 0.100 None 0
CUI: C2678330
Disease: Short dental roots
Short dental roots
phenotype Finding 1 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis
phenotype Finding 25 0.100 None 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension
phenotype Finding 26 2 0.100 None 0