Disease #00036

Official abbreviation ?
Name unclassified / mixed
OMIM ID -
Individuals reported having this disease 161
Phenotype entries for this disease 160
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

161 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00034577 Pinheiro et al. 2013 - Portugal - 55 affected carriers in 15 Portuguese families: different haplotypes - - - ? - - MSH2 1 1 John Paul Plazzer
00034793 Jones 2002; {OMIM604933:0005} - India - - - - - ? 3 unrelated homozygous patientsIndia; multiple colorectal adenomas MUTYH MUTYH 1 3 Carli Tops
00034794 Fleischmann 2004 - (United Kingdom (Great Britain)) - - - - - ? healthy individual; conserved; change of the first of 4 cysteine residues within iron-sulfur binding domain of expressed protein; MUTYH MUTYH 2 1 Carli Tops
00034796 Baglioni 2005; {OMIM604933:0008} - Italy - - - - - ? brother and sister of first-cousin parents; multiple colorectal adenomatous and childhood pilomatricomas MUTYH MUTYH 2 1 Carli Tops
00034808 Nielsen 2005 F Netherlands - Among 170 APC negative Dutch FAP patients - - - ? desmoid; family history Sporadic; Age 27 mesenteric desmoid tumour; duodenum unknown; desmoids; no CRC; diagnosis: desmoid; 2 polyps MUTYH MUTYH 1 1 Carli Tops
00034818 Halford 2003 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034819 Halford 2003 - (United Kingdom (Great Britain)) - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034821 Halford 2003 - - - somatic mutation; does not involve conserved amino acid, human mutant is WT in rat and mouse - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034822 Sampson 2003 - Pakistan - - - - - ? mulitple polyps MUTYH MUTYH 1 1 Carli Tops
00034823 Sampson 2003 - United Kingdom (Great Britain) white - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034824 Sampson 2003 - United Kingdom (Great Britain) - adenomas 31y>100 adenomas; 0/200 control chromosomes - - - ? >100 polyps MUTYH MUTYH 1 1 Carli Tops
00034826 Sampson 2003 - India - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034827 Cheadle and Sampson, 2003 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034830 Knudsen 2003 - - - - - - - ? - MUTYH MUTYH 1 1 Astrid Out
00034832 Lipton 2003 - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034834 Lipton 2003 - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034835 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034836 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034837 Fleischmann 2004 - - - - - - - ? Found in lungcancer patient (control); not conserved MUTYH MUTYH 1 1 Carli Tops
00034838 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034839 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034840 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034841 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034842 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034843 Fleischmann 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034844 Gismondi 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034845 Tao 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034846 Venesio 2004 - Italy - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034847 Venesio 2004 - Italy - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034850 Isidro 2004 - Portugal - not in 150 controls portugal; - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034851 Isidro 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Astrid Out
00034852 Isidro 2004 - - - - - - - ? 19% of mutations in portugalnot in 100 controls Portugal; MUTYH MUTYH 1 1 Carli Tops
00034853 Isidro 2004 - Portugal - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034854 Isidro 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034855 Isidro 2004 - Portugal - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034856 Isidro 2004 - Portugal - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034857 Isidro 2004 - Portugal - - - - - ? not in 150 controls portugal; MUTYH MUTYH 1 1 Carli Tops
00034858 Isidro 2004 - Portugal - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034859 Isidro 2004 - Portugal - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034860 Isidro 2004 - - - - - - - ? - MUTYH MUTYH 1 1 Astrid Out
00034864 Piccioli 2006 - Italy - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034865 Piccioli 2006 - (Italy) - - - - - ? mulitple polyps MUTYH MUTYH 1 1 Carli Tops
00034867 Piccioli 2006 - Italy - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034869 Bai 2007 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034871 Bai 2007 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034873 http://egp.gs.washington.edu/data/mutyh/ - - - - - - - ? - MUTYH MUTYH 1 1 Astrid Out
00034878 Clinical Genetics, LUMC, Leiden, NL - Netherlands - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034881 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034886 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00034892 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - ? 73/73/73y-CRC; diagnosis: colorectal symptoms; colorectal phenotype atypical; >10 polyps MUTYH MUTYH 1 1 Carli Tops
00034893 Jones 2002; {OMIM604933:0004} - Pakistan Pakistan - - - - ? mulitple polyps MUTYH MUTYH 1 1 Carli Tops
00035005 van Puijenbroek 2007 - - - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00035006 van Puijenbroek 2007 - - - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035035 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035036 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035037 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035039 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035040 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035042 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035043 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 2 1 Carli Tops
00035059 Clinical Genetics, LUMC, Leiden, NL M (Netherlands) - - - - - ? - MUTYH MUTYH 1 1 Carli Tops
00035060 MGZ, MŸnchen, DE - Turkey - no known clinic, predictive - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035061 MGZ, MŸnchen, DE - Turkey - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035062 MGZ, MŸnchen, DE - Turkey - no known clinic, sample received from cooperating lab - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035063 Sampson 2003 - United Kingdom (Great Britain) - - - - - ? - MUTYH MUTYH 1 1 Astrid Out
00035064 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035065 MGZ, MŸnchen, DE - (Germany) - no known clinic, predictive - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035066 MGZ, MŸnchen, DE - (Germany) - diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - - ? - MUTYH MUTYH 3 1 Elke Holinski-Feder
00035067 MGZ, MŸnchen, DE - (Germany) - no known clinic, predictive - - - ? - MUTYH MUTYH 2 1 Elke Holinski-Feder
00035068 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035069 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035071 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035072 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035073 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035074 - - (Germany) - no known clinic, predictive - - - ? - MUTYH MUTYH 2 1 Elke Holinski-Feder
00035076 MGZ, MŸnchen, DE - (Germany) - no known clinic, sample received from cooperating lab - - - ? - MUTYH MUTYH 2 1 Elke Holinski-Feder
00035077 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035078 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035079 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035080 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035081 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035082 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035083 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035084 MGZ, MŸnchen, DE - (Germany) - 3 colonoscopies, new adenomas were extracted each time, reports classify them as tubular adenomas - - - ? - MUTYH MUTYH 2 1 Elke Holinski-Feder
00035085 MGZ, MŸnchen, DE - (Germany) - not yet affected (her mother was diagnosed with attenuated familial polyposis coli, because of a carcinoma coli and recurrent adenomas of the tubulovilli kind). variatns also in mother - - - ? - MUTYH MUTYH 2 1 Elke Holinski-Feder
00035086 MGZ, MŸnchen, DE - (Germany) - diverticulosis, suspicious of Lynch-Syndrome, carcinogenic polyps of the rectum - - - ? - MUTYH MUTYH 3 1 Elke Holinski-Feder
00035088 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035089 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035090 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035091 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035092 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035093 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035094 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035095 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035096 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035097 MGZ, MŸnchen, DE - (Germany) - suspicious of aFAP, no family history - - - ? - MUTYH MUTYH 3 1 Elke Holinski-Feder
00035098 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035100 MGZ, MŸnchen, DE - (Germany) - no known clinic, predictive - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035102 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
00035103 MGZ, MŸnchen, DE - (Germany) - - - - - ? - MUTYH MUTYH 1 1 Elke Holinski-Feder
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