All individuals with variants in gene DPYD

119 entries on 2 pages. Showing entries 1 - 100.
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VIP     

Data_av     

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Phenotype details     

Variants     

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00000003 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000004 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, BMD/DMD, CF, deafness - 1 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 2 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 2 1 Global Variome, with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - 0 - - epilepsy - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000052 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 Global Variome, with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00017040 - - reference haplotype - - - (not applicable) - - 0 - - DMB-up no activity 2 1 Johan den Dunnen
00017041 - - reference haplotype - - - (not applicable) - - 0 - - DMB-up no activity 2 1 Johan den Dunnen
00017042 - - reference haplotype - - - (not applicable) - - 0 - - - - 2 1 Johan den Dunnen
00017044 private email - - ? ? United States - - 0 - - - - 3 1 Johan den Dunnen
00017570 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 1 1 Johan den Dunnen
00017571 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017572 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 1 1 Johan den Dunnen
00017573 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 1 1 Johan den Dunnen
00017574 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00017575 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 2 1 Johan den Dunnen
00017576 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 2 1 Johan den Dunnen
00017577 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - DPDD - 1 1 Johan den Dunnen
00017583 - PubMed: Mattison 2002 reference haplotype - - - (not applicable) - - 0 - - - - 1 1 Johan den Dunnen
00017584 - PubMed: Mattison 2002 reference haplotype - - - (not applicable) - - 0 - - - - 2 1 Johan den Dunnen
00017585 - PubMed: Johnson 2002 reference haplotype - - - (not applicable) - - 0 - - DMB-up no activity 1 1 Johan den Dunnen
00017586 - PubMed: Diasio 1988, PubMed: Johnson 2002 4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD F no United States - - 0 - - DPDD - 3 1 Johan den Dunnen
00017587 - PubMed: Johnson 2002 husband of 11895907-FamPatII5 M no United States - - 0 - - Healthy/Control - 3 1 Johan den Dunnen
00017588 - PubMed: Johnson 2002 daugther of 11895907-FamPatII5/II6 F no United States - - 0 - - DPDD partial deficiency 2 1 Johan den Dunnen
00017589 - PubMed: Johnson 2002 son of 11895907-FamPatII5/II6 M no United States - - 0 - - DPDD partial deficiency 2 1 Johan den Dunnen
00017590 - PubMed: Johnson 2002 3 children of 11895907-FamPatIII6/III7 (F, 2M) - no United States - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00017591 - PubMed: Johnson 1999 - M - United States Caucasian >76y 0 - 5-fluorouracil (5-FU) DPDD carcinoma, basal cell; severe toxicity from 5-FU treatment 1 1 Johan den Dunnen
00017592 - PubMed: Wei 1996 3-generation family, 10 affecteds (4F, 6M) - - United Kingdom (Great Britain) - - 0 - - DPDD partial deficiency, index case 5-FU toxicity from cancer treatment 1 10 Johan den Dunnen
00017593 - PubMed: Vreken 1997 - M ? Netherlands - - 0 - - DPDD 8y-severe growth retardation (length <3rd centile), submitted to hospital for treatment of upper airway infection, hypokalaemia (2.5mmol/L), thymine-uraciluria, no convulsions or other neurological abnormalities 2 1 Johan den Dunnen
00017594 - PubMed: Vreken 1997 2-generation family, parent first cousins M yes Netherlands - - 0 - - DPDD 9m-febrile convulsions, severe neuromotor retardation, spastic tetraplegia, cerebral MRI ventriculomegaly with white-matter hypodensity microcephaly, growth retardation; 6y- thymine-uraciluria 1 1 Johan den Dunnen
00017595 - PubMed: Vreken 1997 father of patient 09266349-PatAf M ? Netherlands - - 0 - - DPDD - 1 1 Johan den Dunnen
00019541 - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - - - 1 1 Johan den Dunnen
00050527 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - ? specific learning disability, precocious puberty 1 1 Johan den Dunnen
00050695 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, generalized hypotonia, polyphagia, abnormal facial shape, astigmatism, constipation 1 1 Johan den Dunnen
00080174 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080176 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily 1 1 Francesca Marta Elli
00080179 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080180 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age 1 1 Francesca Marta Elli
00080691 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080692 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080693 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age 1 1 Francesca Marta Elli
00080694 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance 1 1 Francesca Marta Elli
00080695 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080696 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance 1 1 Francesca Marta Elli
00080697 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA 1 1 Francesca Marta Elli
00080698 - PubMed: Linglart et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00080699 - PubMed: Linglart et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA 1 1 Francesca Marta Elli
00100341 - NOT PUBLISHED - F - Spain - - 0 - - ACRDYS-1 - 1 1 Arrate Pereda
00100342 - NOT PUBLISHED - F no Morocco - - 0 - - ACRDYS-1 - 1 1 Arrate Pereda
00101228 - reference haplotype - - - - - - 0 - - DMB-p decreased activity 1 1 Johan den Dunnen
00106166 - reference haplotype - - - - - - 0 - - DMB-p decreased activity 1 1 Johan den Dunnen
00155716 mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - 0 - - DPDD see paper; ..., healthy, history of gastrointestinal dysmotility, normal development, normal intellect, significant pregnancy-induced symptoms (severe abdominal pain, increased gastrointestinal symptoms, pancreatitis, intermittent changes in consciousness) in three consecutive pregnancies; 3rd pregnancy developed recurrent stroke-like episodes including symptoms of headaches, blurring to near loss of vision, and right hemiparesis 3 3 Maja Tarailo-Graovac
00184097 11004 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184112 13008 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184161 25005 IP3 project, submitted - M no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184168 25013 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184187 3014 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184194 3021 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184201 3029 IP3 project, submitted - M no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184220 41005 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184228 5003 IP3 project, submitted - M no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184229 5004 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184231 5006 IP3 project, submitted - M no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184245 6002 IP3 project, submitted - M no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184260 6017 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00184262 6019 IP3 project, submitted - F no Netherlands white - 0 - - Healthy/Control - 1 1 Jesse Swen
00228661 patients PubMed: Henricks 2018 - F;M - Netherlands - - 0 - - DMB-i - 1 51 Johan den Dunnen
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