All individuals with variants in gene COL7A1

534 entries on 6 pages. Showing entries 1 - 100.
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Age at death     

VIP     

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Phenotype details     

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00000013 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00103993 Vogelaar-036A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00248885 - PubMed: Ryynanen 1991 5-generation family, 23 affecteds F - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa some family members Pasini type DDEB 1 16 -
00248886 - PubMed: Ryynanen 1991 from 5-generation family F - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248887 - PubMed: Ryynanen 1991 from 5-generation family F - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248888 - PubMed: Ryynanen 1991 from 5-generation family M - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248889 - PubMed: Ryynanen 1991 from 5-generation family F - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248890 - PubMed: Ryynanen 1991 from 5-generation family M - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248891 - PubMed: Ryynanen 1991 from 5-generation family M - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248892 - PubMed: Ryynanen 1991 from 5-generation family M - Finland - - 0 - - Generalized dominant dystrophic epidermolysis bullosa - 1 1 -
00248893 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248894 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248895 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248896 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248897 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248898 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248899 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248900 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248901 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248902 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248903 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248904 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248905 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248906 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248907 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248908 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248909 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248910 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248911 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248912 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248913 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248914 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248915 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248916 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248917 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248918 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248919 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248920 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248921 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248922 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248923 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248924 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248925 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248926 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248927 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248928 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248929 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248930 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248931 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248932 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248933 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248934 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248935 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248936 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248937 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa acral 1 1 Peter van den Akker
00248938 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa acral 1 1 Peter van den Akker
00248939 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa acral 1 1 Peter van den Akker
00248940 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa acral 1 1 Peter van den Akker
00248941 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248942 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248943 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248944 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248945 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248946 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248947 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248948 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248949 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248950 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248951 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248952 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248953 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248954 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248955 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248956 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248957 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248958 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248959 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248960 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248961 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248962 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248963 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248964 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248965 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248966 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248967 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa unknown 1 1 Peter van den Akker
00248968 - - - - - - - - 0 - - epidermolysis bullosa, pretibial pretibial 1 1 Peter van den Akker
00248969 - - - - - - - - 0 - - epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type) nails only 1 1 Peter van den Akker
00248970 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248971 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248972 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248973 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248974 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248975 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248976 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248977 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248978 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248979 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
00248980 - - - - - - - - 0 - - Generalized dominant dystrophic epidermolysis bullosa generalized 1 1 Peter van den Akker
00248981 - - - - - - - - 0 - - Epidermolysis bullosa pruriginosa pruriginosa 1 1 Peter van den Akker
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