Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 GeneticVariation disease BEFREE This study extends the allelic and phenotypic spectra of MPLKIP-related TTDN, to include a splice variant that causes cardiomyopathy as part of the TTDN phenotype. 26880286 2016
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 GeneticVariation disease BEFREE Mutations in the TTDN1 (C7orf11) gene have been shown to cause a nonphotosensitive type of trichothiodystrophy. 26518168 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 GeneticVariation disease BEFREE Delayed bone age and seizure disorders were overrepresented in the TTDN1 group (P=0.009 and P=0.024, respectively), whereas some characteristic TTD clinical, laboratory, and imaging findings were absent. 25290684 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 Biomarker disease BEFREE We have evaluated the involvement of TTDN1 in 44 unrelated nonphotosensitive TTD cases of different geographic origin and with different disease severity. 16977596 2007
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 GeneticVariation disease BEFREE C7orf11 maps to chromosome 7p14, and the disease locus has been designated "TTDN1" (TTD nonphotosensitive 1). 15645389 2005
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 GermlineCausalMutation disease ORPHANET
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.550 Biomarker disease CTD_human
CUI: C1313961
Disease: Trichorrhexis nodosa syndrome
Trichorrhexis nodosa syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND Ocular manifestations of trichothiodystrophy. 21959366 2011
CUI: C1313961
Disease: Trichorrhexis nodosa syndrome
Trichorrhexis nodosa syndrome 		0.500 GeneticVariation disease UNIPROT Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. 15645389 2005
CUI: C1313961
Disease: Trichorrhexis nodosa syndrome
Trichorrhexis nodosa syndrome 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		0.410 GeneticVariation disease BEFREE The female patient of TTDN1 carries a homozygous G insertion (rs747470385) in the MPLKIP gene. 30598092 2018
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		0.410 CausalMutation disease CLINVAR Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. 26880286 2016
CUI: C4083251
Disease: Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Nonphotosensitive 1 		0.410 Biomarker disease CTD_human
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.400 Biomarker disease CTD_human
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.400 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0432267
Disease: Tricho-thiodystrophy disorder
Tricho-thiodystrophy disorder 		0.300 Biomarker disease CTD_human
CUI: C3495483
Disease: Amish Brittle Hair Brain Syndrome
Amish Brittle Hair Brain Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 GeneticVariation group BEFREE This study extends the allelic and phenotypic spectra of MPLKIP-related TTDN, to include a splice variant that causes cardiomyopathy as part of the TTDN phenotype. 26880286 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO
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