All individuals with variants in gene DDB2

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00436164 FamPat2 PubMed: de Souza Timoteo 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes Brazil - - - - - XPE see paper; ..., early-onset skin cancer 1 2 Johan den Dunnen
00436165 FamPatII4 PubMed: de Souza Timoteo 2023 sister F yes Brazil - - - - - XPE see paper; ..., early-onset skin cancer 1 1 Johan den Dunnen
00436166 XP2RO PubMed: Nichols 1996 - - - Netherlands - - - - - XPE - 1 1 Johan den Dunnen
00436167 XP82TO PubMed: Nichols 1996 - - - Japan - - - - - XPE - 1 1 Johan den Dunnen
00436168 Ops1 PubMed: Itoh 1999 - F - Japan - - - - - XPE see paper; ..., photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas 1 1 Johan den Dunnen
00436172 XP23PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - 1 1 Johan den Dunnen
00436173 XP27PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - 1 1 Johan den Dunnen
00436174 XP25PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - XPE - 1 1 Johan den Dunnen
00436175 GM01389 PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - - United States - - - - - XPE - 2 1 Johan den Dunnen
00436176 XP51/73MAH-1 PubMed: Ben Rekaya 2018 5-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives F;M yes Tunisia - - - - - XPE see paper; ... 1 1 Johan den Dunnen
00436180 patient PubMed: Vahteristo 2007 - M - Finland - - - - - XPE see paper; ..., nasal spinocellular carcinoma, facial spinocellular carcinoma 1 1 Johan den Dunnen
00436181 XP1GO PubMed: Oh 2011 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - Germany - - - - - XPE see paper; ..., <30y-more then 400 basal cell carcinomas/squamous cell carcinomas, 6 melanomas 1 1 Johan den Dunnen
00436182 FamBPatXP37BE PubMed: Oh 2011 2-generation family, affected sister/brother, unaffected heterozygous parents/relatives F - Netherlands;United States - - - - - XPE see paper; ..., >300 basal cell carcinomas/squamous cell carcinomas, no melanomas 1 2 Johan den Dunnen
00436183 FamBPatXP66BE PubMed: Oh 2011 brother M - United States - - - - - XPE see paper; ..., <40y-six melanomas 1 1 Johan den Dunnen
00436184 XP408BE/GM01389 PubMed: Oh 2011 - F - United States white - - - - XPE see paper; ..., no sunburns, tanned easily, no significant photophobia; 14y-multiple skin cancers (basal cell carcinomas and squamous cell carcinomas) on face; no XP neurological abnormalities; before 5oy->600 basal cell carcinomas and squamous cell carcinomas and 12 melanomas 2 1 Johan den Dunnen
00436185 patient PubMed: Yang 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes China - - - - - XPE see paper; ..., freckle-like hyperpigmented macules in sun-exposed areas; recurrent ulceration, bleeding, crusted nodules on her nose 1 1 Johan den Dunnen
00436252 XP115BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 63 1 1 Johan den Dunnen
00436253 XP105BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75 2 1 Johan den Dunnen
00436254 XP98BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68 1 1 Johan den Dunnen
00436255 XP100BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 9y-first cancer, basal cell carcinoma; no malignant melanoma; >100 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 53 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.