Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.700 GeneticVariation disease UNIPROT GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. 26996949 2016
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.700 Biomarker disease GENOMICS_ENGLAND GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. 26996949 2016
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4310785
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE 		0.700 Biomarker disease CTD_human
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.320 GeneticVariation disease BEFREE Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. 28973399 2017
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.320 GermlineCausalMutation disease ORPHANET Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). 26996949 2016
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.320 GeneticVariation disease BEFREE Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). 26996949 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0002871
Disease: Anemia
Anemia 		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: 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