Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 Biomarker disease BEFREE Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases. 31835126 2020
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		0.100 Biomarker disease HPO
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.100 Biomarker disease HPO
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		0.100 Biomarker phenotype HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE In this review, we will be exploring the new insights in scientific research on the functioning of the NER pathway, the role of TFIIH as the central complex of NER, the pivotal helicase XPD as the lynchpin of NER and the effects of various single nucleotide polymorphisms (SNPs) of XPD on its functioning and their consequent role in colorectal carcinogenesis. 29616226 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 GeneticVariation phenotype BEFREE To study the relationships between mutagenesis and carcinogenesis, we compared the mutations and their frequency induced by ultraviolet irradiation at 254 nm (UV-C) in XP-D (GM-08207B/XP6BE), TTD/XP-D (TTD1VI-LAS-KMT11) and wild-type (MRC-5V1) human cells. 7563073 1995
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 Biomarker phenotype BEFREE Apart from its role in basal transcription, TFIIH is intimately implicated in DNA repair and (probably) in cell cycle control (both of which are required to prevent carcinogenesis) as well as having possible roles in other processes. 8791490 1996
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 GeneticVariation disease BEFREE Individuals carrying the TCI/CCI genotype (S-haplotype) of the IL-4 gene are 5 times more susceptible to CP, whereas the CTI/TTD genotype (P-haplotype) confers protection against CP. 28114408 2017
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0149651
Disease: Clubbing
Clubbing 		0.100 Biomarker phenotype HPO
CUI: C0007682
Disease: CNS disorder
CNS disorder 		0.010 GeneticVariation group BEFREE In contrast, mutations in two members of the TFIIH complex, the XPB and XPD genes are generally very severe with both skin and CNS disorders. 10699759 2000