Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0.100 Biomarker phenotype HPO
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		0.100 Biomarker disease HPO
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination 		0.100 Biomarker disease HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		0.100 Biomarker phenotype HPO
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 Biomarker disease BEFREE We evaluated a possible role of DNA repair pathways using gene expression of single-strand break (XPA, XPC, XPG/ERCC5, CSA/ERCC8, and CSB/ERCC6) and double-strand break (ATM, BRCA1, BRCA2, RAD51, XRCC5, XRCC6, LIG4) in 92 patients with myelodysplastic syndrome (73 de novo, 9 therapy-related (t-MDS). 31667665 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.330 Biomarker disease CTD_human ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.330 GeneticVariation disease BEFREE Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. 23202958 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.330 GeneticVariation disease BEFREE ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.330 AlteredExpression disease BEFREE We also measured ERCC6 mRNA levels in retinal pigment epithelium (RPE) cells of healthy and early AMD affected human donor eyes. 21072178 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.330 GeneticVariation disease LHGDN ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.010 Biomarker disease BEFREE This study examined the associations of 18 single nucleotide polymorphisms (SNPs) in four DNA repair genes (BLM, WRN, ERCC6, and OGG1) with ARC in Han Chinese from the Jiangsu Eye Study, a population-based epidemiologic study. 23322570 2013
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.100 Biomarker disease HPO
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 Biomarker phenotype HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker disease CTD_human Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO