Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
0.700 CausalMutation disease CLINVAR
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
0.700 Biomarker disease CTD_human
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
0.700 Biomarker disease GENOMICS_ENGLAND
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
0.700 GeneticVariation disease CLINVAR
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 Biomarker disease HPO
CUI: C0006266
Disease: Bronchospasm
Bronchospasm
0.100 Biomarker disease HPO
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries
0.100 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
0.100 Biomarker disease HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0013592
Disease: Ectropion
Ectropion
0.100 Biomarker disease HPO
CUI: C0013595
Disease: Eczema
Eczema
0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO