Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 GeneticVariation disease BEFREE Our results provide further evidence that mutations in POLD1 are responsible for MDPL syndrome and serve as a common genetic determinant across different ethnicities. 29199204 2018
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 GeneticVariation disease BEFREE The exploration was performed by direct sequencing of POLD1 gene exon 15 in the male patient with a classical MDPL phenotype and by whole exome sequencing in the female patient and her unaffected parents. 28521875 2017
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 GeneticVariation disease BEFREE This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. 26350127 2015
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 GeneticVariation disease BEFREE The MDPL patient herein described harbors a novel mutation in the exonuclease domain of POLD1. 25131834 2014
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND The MDPL patient herein described harbors a novel mutation in the exonuclease domain of POLD1. 25131834 2014
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 GermlineCausalMutation disease ORPHANET An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 CausalMutation disease CLINVAR
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas. 26748215 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Our data could have clinical implications regarding tumor genotype-based cancer therapy, as inactivating POLD1 mutations have recently been identified in small subsets of colorectal and endometrial cancers. 26755646 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA polymerase δ was described in several families with multiple cases of endometrial cancer. 24838932 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Germline mutations in the exonuclease (proofreading) domains of 2 DNA polymerases (POLE and POLD1) have been associated with a dominantly inherited, highly penetrant syndrome of oligo adenomatous polyposis and early-age-of-diagnosis colorectal cancer and endometrial cancer. 24509466 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Sequence alterations of the POLD1 gene at different sites have been previously reported in human colorectal and endometrial carcinomas. 25131834 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 Biomarker disease CTD_human The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser478Asn, have high penetrance, and POLD1 mutation was also associated with endometrial cancer predisposition. 23263490 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE Missense mutations affecting the exonuclease domain of POLD1 have recently been shown to predispose to colorectal and endometrial cancers. 23770608 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser478Asn, have high penetrance, and POLD1 mutation was also associated with endometrial cancer predisposition. 23263490 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 GeneticVariation disease BEFREE We have recently shown that germline POLE and POLD1 exonuclease domain mutations (EDMs) predispose to colorectal cancer (CRC) and, in the latter case, to endometrial cancer (EC). 23528559 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 Biomarker disease BEFREE Here, we present the evidence for POLE and POLD1 as important contributors to the pathogenesis of CRC and EC, and highlight some of the key questions in this emerging field. 23447401 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 Biomarker disease HPO
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.600 GeneticVariation disease BEFREE One known pathogenic variant in POLD1 was detected (p.S478N), together with variants in 17 candidate genes not previously associated with CRC. 31555933 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.600 GeneticVariation disease BEFREE Refinement of estimates of CRC risk for POLD1 carriers is needed; however, clinical management recommendations could follow those made for POLE carriers. 29120461 2018