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CanVaS - A Greek Cancer Patient Genetic Variation Resource
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Disease #00223
Official abbreviation
NDL
Name
Nodules
OMIM ID
-
Inheritance
-
Individuals reported having this disease
14
Phenotype entries for this disease
14
Associated with 0 genes
-
Associated tissues
-
Disease features
-
Remarks
-
Individuals
Legend
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Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender
: The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Geographic origin
: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Population
: Additional information on the individual's population.
Consanguinity
: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
14 entries on 1 page. Showing entries 1 - 14.
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Legend
Individual ID
Reference
Gender
Geographic origin
Geographic origin
Population
Consanguinity
Remarks
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00019912
-
M
-
-
Greek
no
-
ColPol, CRC, LuCa, NDL, Polyposis
-
-
BLM, CDH1, FANCI, FANCL, FANCM, MSH6, NF2, SDHC, WRN
10
1
Despoina Kalfakakou
00020007
-
F
Chania, Crete
Asia Minor
Greek
no
-
CRC, NDL
-
-
BRCA2, BUB1B, DIS3L2, ERCC2, FANCC, FANCD2
10
1
Despoina Kalfakakou
00020087
-
M
Symi
-
Greek
no
-
ColPol, NDL
-
-
BRIP1, BUB1B, ERCC5, PTEN, SUFU, WT1
8
1
Despoina Kalfakakou
00020565
-
M
Fotada, Trikala
-
Greek
no
-
HMGM, NDL, RCC
-
-
CHEK2, MUTYH, SLX4
6
1
Despoina Kalfakakou
00020623
-
F
Pontus
-
Greek
no
-
NDL
-
RET
-
0
1
Despoina Kalfakakou
00020632
-
F
Megalochori, Lesvos
Africa-UK-Sweden
Greek
no
-
NDL
-
-
APC, BLM, EPCAM, ERCC5, GATA2, MLH1, MSH2, RET, SDHC, TSC2, WT1
15
1
Despoina Kalfakakou
00020647
-
F
Nea Lefki, Larisa
Kalivia, Pella
Greek
no
-
NDL
-
RET
-
0
1
Despoina Kalfakakou
00020743
-
F
-
-
Greek
no
-
CAL, LiCa, NDL, TRC
-
-
ATM, CHEK2, DICER1, EGFR, FANCI, PMS2, PTCH1, RB1, SUFU
10
1
Despoina Kalfakakou
00020829
-
F
Andros
Samos
Greek
no
-
NDL
-
-
BARD1, FLCN, MSH6, RAD51C, TSC2
6
1
Despoina Kalfakakou
00020843
-
F
Kalamata
Lechaina, Ilia
Greek
no
-
ADNM, NDL, TRC
-
MEN1
-
0
1
Despoina Kalfakakou
00020873
-
M
Nisyros
Constantinople
Greek
no
-
CAL, HypPT, NDL, Pheo
-
-
ALK, BAP1, BRCA2, BUB1B, DIS3L2, ERCC2, MLH1, NF1, PTCH1, RB1, SUFU
14
2
Despoina Kalfakakou
00020882
-
M
Tripoli
Megalopoli, Arcadia
Greek
no
-
NDL, PNCA2
-
MEN1
MEN1
1
1
Despoina Kalfakakou
00020954
-
F
Ano Diminio, Corinthia
Rizomylos, Aigio
Greek
no
-
HMGM, MenDis, MNGM, NDL, SIPol, TRC
-
-
APC, BMPR1A, BRCA1, DIS3L2, EGFR, EPCAM, ERCC4, KIT, MLH1, SMAD4, TP53
17
1
Despoina Kalfakakou
00021989
-
M
-
-
Greek
no
-
NDL, RenLes, TSC2
-
-
APC, ATM, BLM, BRIP1, DICER1, DIS3L2, FANCM, KIT, MSH6, PTCH1, PTEN, SLX4, TSC2
13
1
Despoina Kalfakakou
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