TONSL, tonsoku like, DNA repair protein, 4796

N. diseases: 67; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		0.100 Biomarker disease HPO
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.100 Biomarker disease HPO
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		0.100 Biomarker phenotype HPO
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		0.100 Biomarker disease HPO
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 Biomarker phenotype HPO
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		0.100 Biomarker phenotype HPO
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		0.100 Biomarker phenotype HPO
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.100 Biomarker phenotype HPO
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		0.100 Biomarker phenotype HPO
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.100 Biomarker disease HPO
CUI: C1849079
Disease: Lumbar interpedicular narrowing
Lumbar interpedicular narrowing 		0.100 Biomarker phenotype HPO
CUI: C1849081
Disease: Metaphyseal striations
Metaphyseal striations 		0.100 Biomarker phenotype HPO
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		0.100 Biomarker phenotype HPO
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose 		0.100 Biomarker phenotype HPO
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		0.100 Biomarker phenotype HPO