Disease #00027

Official abbreviation CMM3
Name Melanoma, cutaneous malignant, 3
OMIM ID 609048
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 19
Phenotype entries for this disease 20
Associated with 1 gene CDK4
Associated tissues skin
Disease features -
Remarks -


Individuals

19 entries on 1 page. Showing entries 1 - 19.
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AscendingIndividual ID     

Reference     

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Geographic origin     

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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00017462 - M Kefalonia Amaliada Greek no - CMM3, VCCa - BRCA2 BRCA2 1 1 Despoina Kalfakakou
00019727 - M - - Greek no - BladCa, CMM3, CRC, SkCa - - - 0 1 Despoina Kalfakakou
00019916 - F Rethimno, Crete - Greek no - CMM3, CRC - - ALK, BAP1, ERCC3, EXT2, NF1, PTCH1, RAD51C, RUNX1, SDHB, WT1 11 1 Despoina Kalfakakou
00020057 - M Constantinople Smyrna Greek no - CMM3, CRC - - ALK, BAP1, CDC73, ERCC2, FANCA, HNF1A, PRKAR1A, WT1 10 1 Despoina Kalfakakou
00020759 - M Albania - Albanian no - CMM3 - - DIS3L2, FANCM, HNF1A, NF1, PHOX2B, PTCH1, TSC2 8 1 Despoina Kalfakakou
00020764 - F - - Greek no - BrCa, CMM3, LuCa, MNGM - - ATM, BAP1, BRCA2, MSH6, PRF1, TSC2 7 1 Despoina Kalfakakou
00020784 - M - - - no - CMM3 - CDKN2A CDKN2A 1 2 Despoina Kalfakakou
00020786 - F Athens - Greek no - CMM3 - - APC, DIS3L2, EPCAM, FANCI, MSH2, NBN, SLX4, TSC1, TSC2, WRN 15 2 Despoina Kalfakakou
00020816 - F Eleusis - Greek no - CMM3, ENC - - FANCA, FANCD2, HNF1A, MLH1, NSD1, RB1, RET, SMAD4, TSC2, VHL 11 1 Despoina Kalfakakou
00020914 - F Serres Lamia Greek no - CMM3 - - BMPR1A, DICER1, NBN, PTCH1, PTEN, RECQL4, RHBDF2, SDHD, STK11, TP53, TSC2 11 1 Despoina Kalfakakou
00020918 - M Kalamata - Greek no - CMM3, CRC - - BRCA2, DICER1, NF1, NSD1, RB1, RECQL4, RHBDF2, XPC 11 1 Despoina Kalfakakou
00020938 - F Piraeus Kalamata Greek no - CMM3 - - ATM, BRCA2, ERCC2, ERCC4, FANCB, FLCN, SLX4 9 1 Despoina Kalfakakou
00020947 - M Andronianos, Euboea Dendra, Euboea Greek no - CMM3, PNCA2, TRC - - EPCAM, FANCA, FANCD2, FLCN, PRF1, RECQL4, RHBDF2, TSC1, VHL 11 1 Despoina Kalfakakou
00020959 - M Zakynthos Kyllini, Ilia Greek no - CMM3, LuCa, RCC - - ALK, ATM, CDH1, ERCC3, ERCC5, MLH1, NBN 8 1 Despoina Kalfakakou
00021437 - F - - Greek no - CMM3, OVCA - - NBN 1 1 Despoina Kalfakakou
00021494 - F Nafplion - Greek no - CMM3, OVCA - - ATM, CDC73, CEP57, DICER1, FANCC, FANCD2, FANCM, PALB2, RAD51C 12 1 Despoina Kalfakakou
00021551 - F Boeotia Athens Greek no - CMM3, OVCA - - BAP1, BRCA2, CDC73, CDK4, ERCC4, FANCA, FANCI, MEN1, PMS2, RECQL4, SMARCB1, SUFU 14 1 Despoina Kalfakakou
00021680 - F Preveza Mytikas, Preveza Greek no - CMM3, OVCA - - AIP, ALK, ERCC2, MEN1, MLH1, SMAD4, STK11 9 1 Despoina Kalfakakou
00021866 - F Morfi, Kozani - Greek no - CMM3, OVCA - - CDH1, CYLD, ERCC4, MSH6, NF1, RECQL4, STK11 8 1 Despoina Kalfakakou
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