Disease #05596 (XP (xeroderma pigmentosum (XP)))

Official abbreviation XP
Name xeroderma pigmentosum (XP)
OMIM ID -
Inheritance -
Individuals reported having this disease 101
Phenotype entries for this disease 101
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2019-04-20 16:55:51 +02:00 (CEST)
Date last edited N/A


Individuals

101 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00230992 - - - F no Brazil - - - - - XP The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure. ERCC5 ERCC5 2 1 Tiago de Souza
00230993 - - - M no Brazil - - - - - XP The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed. ERCC5 ERCC5 2 1 Tiago de Souza
00306118 PatXP202DC Imoto 2007, J Invest Dermatol 127 Supp. Abs547 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 37y - - - XP progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y ERCC1 ERCC1 2 1 Johan den Dunnen
00306174 PatXP126LO PubMed: Sijbers 1996, PubMed: Norris 1988 - - - United Kingdom (Great Britain) - - - - - XP - ERCC4 ERCC4 4 1 Johan den Dunnen
00306175 PatXP42RO PubMed: Sijbers 1998 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Netherlands white - - - - XP see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy ERCC4 ERCC4 1 2 Johan den Dunnen
00306177 PatXP26BR PubMed: Ahmad 2010 - - - - - - - - - XP - ERCC4 ERCC4 1 1 Johan den Dunnen
00306178 PatXP32BR PubMed: Ahmad 2010 - - - - - - - - - XP - ERCC4 ERCC4 2 1 Johan den Dunnen
00306179 PatAS871 PubMed: Ahmad 2010 - - - - - - - - - XP severe XP with neurodegeneratio ERCC4 ERCC4 2 1 Johan den Dunnen
00306180 PatXP62RO PubMed: Ahmad 2010 sib of XP42RO - - - - - - - - XP mild XP, late onset neurodegeneration ERCC4 ERCC4 1 1 Johan den Dunnen
00306181 PatXP24KY PubMed: Matsumura 1998 - F - Japan - - - - - XP see paper; ... ERCC4 ERCC4 1 1 Johan den Dunnen
00306182 PatXP24BR PubMed: Berneburg 2000,PubMed: Ahmad 2010 - - - - - - - - - XP severe XP, neurodegeneration, no skin cancer ERCC4 ERCC4 2 1 Johan den Dunnen
00436190 XP111BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 3-5; unscheduled DNA synthesis 3 XPA XPA 1 1 Johan den Dunnen
00436191 XP54PV PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; 8y-first cancer, squamous cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4-5; XPA XPA 1 1 Johan den Dunnen
00436192 XP57BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 4; unscheduled DNA synthesis 1 XPA XPA 1 1 Johan den Dunnen
00436193 XP80BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2 XPA XPA 1 1 Johan den Dunnen
00436194 XP81BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 5 XPA XPA 1 1 Johan den Dunnen
00436195 XP15BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 0 XPA XPA 1 1 Johan den Dunnen
00436196 XP114BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 5; unscheduled DNA synthesis 8 XPA XPA 1 1 Johan den Dunnen
00436197 XP20BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 8; unscheduled DNA synthesis 8 XPA XPA 1 1 Johan den Dunnen
00436198 XP9BI PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; XPA XPA 1 1 Johan den Dunnen
00436199 XP103BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 20 XPA XPA 1 1 Johan den Dunnen
00436200 XP53BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 3 XPA XPA 1 1 Johan den Dunnen
00436201 XP116BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) India - - - - XP sunburn severity score 1; 30y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 12 XPA XPA 1 1 Johan den Dunnen
00436202 XP2PR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; XPA XPA 1 1 Johan den Dunnen
00436203 XP89BR-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; XPA XPA 1 1 Johan den Dunnen
00436204 XP1PR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; XPA XPA 1 1 Johan den Dunnen
00436205 XP88BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 XPA XPA 1 1 Johan den Dunnen
00436206 XP89BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 5 XPA XPA 1 1 Johan den Dunnen
00436207 XP1CB PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) India - - - - XP sunburn severity score 0; 46y-first cancer, melanoma in situ; 10 malignant melanomas; 35 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 13 XPA XPA 1 1 Johan den Dunnen
00436208 XP84BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 1; unscheduled DNA synthesis 14 ERCC3 ERCC3 1 1 Johan den Dunnen
00436209 XP1SA PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) mixed 55y - - - XP sunburn severity score 2; 22y-first cancer, malignant melanoma; 1 malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 21 ERCC3 ERCC3 2 1 Johan den Dunnen
00436210 XP117BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8 XPC XPC 2 1 Johan den Dunnen
00436211 XP93BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1 XPC XPC 1 1 Johan den Dunnen
00436212 XP66TU PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 3y-first cancer, squamous cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 20 XPC XPC 2 1 Johan den Dunnen
00436213 XP112BR-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; XPC XPC 2 1 Johan den Dunnen
00436214 XP102BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 14 XPC XPC 2 1 Johan den Dunnen
00436215 XP112BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9 XPC XPC 2 1 Johan den Dunnen
00436216 XP4LE PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; 6y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 5 XPC XPC 1 1 Johan den Dunnen
00436217 XP73BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 1; unscheduled DNA synthesis 7 XPC XPC 1 1 Johan den Dunnen
00436218 XP94BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Sri Lanka - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 11 XPC XPC 1 1 Johan den Dunnen
00436219 XP82BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 XPC XPC 2 1 Johan den Dunnen
00436220 XP76BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 10 XPC XPC 1 1 Johan den Dunnen
00436221 XP78BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 28 XPC XPC 1 1 Johan den Dunnen
00436222 XP3LE PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 15 XPC XPC 1 1 Johan den Dunnen
00436223 XP77BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; 8y-first cancer, basal cell carcinoma; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 10 XPC XPC 1 1 Johan den Dunnen
00436224 XP58BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; XPC XPC 1 1 Johan den Dunnen
00436225 XP83BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 21 XPC XPC 1 1 Johan den Dunnen
00436226 XP62BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 6 XPC XPC 1 1 Johan den Dunnen
00436227 XP39BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 12 XPC XPC 1 1 Johan den Dunnen
00436228 XP35BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 0; unscheduled DNA synthesis 13 XPC XPC 1 1 Johan den Dunnen
00436229 XP28BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Bangladesh - - - - XP sunburn severity score 0; 8y-first cancer, basal cell carcinoma; no malignant melanoma; 8 nonmelanoma skin cancers; ocular severity score 9; neuro severity score 0; unscheduled DNA synthesis 12 XPC XPC 1 1 Johan den Dunnen
00436230 XP51BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Middle East - - - - XP sunburn severity score 0; 12y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 1 XPC XPC 1 1 Johan den Dunnen
00436231 XP6B1 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 0; 22y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 13 XPC XPC 1 1 Johan den Dunnen
00436232 XP1SH PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 3y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 6 XPC XPC 2 1 Johan den Dunnen
00436233 XP22BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Middle East - - - - XP sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 13 XPC XPC 1 1 Johan den Dunnen
00436234 XP21BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Middle East 39y - - - XP sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15 XPC XPC 1 1 Johan den Dunnen
00436235 XP95BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 20y-first cancer, malignant melanoma; 9 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 27 XPC XPC 1 1 Johan den Dunnen
00436236 XP107BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 28y-first cancer, melanoma in situ; 4 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 41 XPC XPC 1 1 Johan den Dunnen
00436237 XP29BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Asia - - - - XP sunburn severity score 0; 57y-first cancer, basal cell carcinoma; 3 malignant melanomas; 1 nonmelanoma skin cancer; ocular severity score 2; neuro severity score 1; unscheduled DNA synthesis 33 XPC XPC 1 1 Johan den Dunnen
00436238 XP109BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 32 ERCC2 ERCC2 3 1 Johan den Dunnen
00436239 XP87BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 23 ERCC2 ERCC2 2 1 Johan den Dunnen
00436240 XP70BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 10y-first cancer, squamous cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 4; neuro severity score 6; unscheduled DNA synthesis 10 ERCC2 ERCC2 2 1 Johan den Dunnen
00436241 XP16BR24 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 ERCC2 ERCC2 2 1 Johan den Dunnen
00436242 XP71BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19 ERCC2 ERCC2 2 1 Johan den Dunnen
00436243 XP17BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 21y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 ERCC2 ERCC2 2 1 Johan den Dunnen
00436244 XPJCLO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 8; unscheduled DNA synthesis 19 ERCC2 ERCC2 2 1 Johan den Dunnen
00436245 XP135LO-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 13y-first cancer, basal cell carcinoma; no malignant melanoma; 22 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 ERCC2 ERCC2 1 1 Johan den Dunnen
00436246 XP135LO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 12y-first cancer, basal cell carcinoma; 1 malignant melanoma; 50 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 ERCC2 ERCC2 1 1 Johan den Dunnen
00436247 XP104LO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13 ERCC2 ERCC2 2 1 Johan den Dunnen
00436248 XP59BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; 36y-first cancer, basal cell carcinoma; 5 malignant melanomas; 23 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 3; unscheduled DNA synthesis 24 ERCC2 ERCC2 3 1 Johan den Dunnen
00436249 XP67BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75 ERCC2 ERCC2 3 1 Johan den Dunnen
00436250 XP30BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) mixed - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36 ERCC2 ERCC2 2 1 Johan den Dunnen
00436251 XP97BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) China; Han - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 53 ERCC2 ERCC2 2 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 DDB2 DDB2 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 DDB2 DDB2 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 DDB2 DDB2 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 DDB2 DDB2 1 1 Johan den Dunnen
00436256 XP72BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 36 ERCC4 ERCC4 1 1 Johan den Dunnen
00436257 XP32BR37 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 16 ERCC4 ERCC4 2 1 Johan den Dunnen
00436258 XP24BR37 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 6; unscheduled DNA synthesis 4 ERCC4 ERCC4 2 1 Johan den Dunnen
00436259 XP104BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 0 ERCC5 ERCC5 1 1 Johan den Dunnen
00436260 XP118BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 3 ERCC5 ERCC5 2 1 Johan den Dunnen
00436261 XP55BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - XP sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 ERCC5 ERCC5 1 1 Johan den Dunnen
00436262 XP56BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 ERCC5 ERCC5 1 1 Johan den Dunnen
00436263 XP34BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 3 ERCC5 ERCC5 2 1 Johan den Dunnen
00436264 XP120BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 4; ERCC5 ERCC5 2 1 Johan den Dunnen
00436265 XP119BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 3; 20y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; ERCC5 ERCC5 2 1 Johan den Dunnen
00436266 XP101BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 6; unscheduled DNA synthesis 14 ERCC5 ERCC5 1 1 Johan den Dunnen
00436267 XP1NO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 16y-first cancer, squamous cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 144 POLH POLH 1 1 Johan den Dunnen
00436268 XP5B1 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 111 POLH POLH 2 1 Johan den Dunnen
00436269 XP1CH PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 22y-first cancer, melanoma in situ; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 99 POLH POLH 2 1 Johan den Dunnen
00436270 XP110BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 23y-first cancer, malignant melanoma; 3 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 87 POLH POLH 2 1 Johan den Dunnen
00436271 XP136LO PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 42y-first cancer, basal cell carcinoma; 12 malignant melanomas; 11 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 91 POLH POLH 2 1 Johan den Dunnen
00436272 XP63BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 38y-first cancer, basal cell carcinoma; 15 malignant melanomas; >20 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 1; unscheduled DNA synthesis 130 POLH POLH 2 1 Johan den Dunnen
00436273 XP64BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) mixed - - - - XP sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 144 POLH POLH 1 1 Johan den Dunnen
00436274 XP115LO25 PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Middle East - - - - XP sunburn severity score 0; 21y-first cancer, squamous cell carcinoma; 17 malignant melanomas; 16 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 100 POLH POLH 1 1 Johan den Dunnen
00436275 XP85BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 44y-first cancer, basal cell carcinoma; no malignant melanoma; 120 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 90 POLH POLH 2 1 Johan den Dunnen
00436276 XP36BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 33y-first cancer, malignant melanoma; 10 malignant melanomas; >10 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 99 POLH POLH 2 1 Johan den Dunnen
00436277 XP36BR-S PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 0; 44y-first cancer, malignant melanoma; 13 malignant melanomas; 21 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 99 POLH POLH 2 1 Johan den Dunnen
00436278 XP6DU PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - XP sunburn severity score 1; 39y-first cancer, malignant melanoma; >8 malignant melanomas; >30 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 100 POLH POLH 2 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.