MCID: BRN074
MIFTS: 10

Brain Tumor-Polyposis Syndrome 2 malady

Genetic diseases (common), Neuronal diseases, Cancer diseases categories

Summaries for Brain Tumor-Polyposis Syndrome 2

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Sources:
48OMIM, 34MalaCards
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MalaCards: Brain Tumor-Polyposis Syndrome 2 An important gene associated with Brain Tumor-Polyposis Syndrome 2 is APC (adenomatous polyposis coli). Affiliated tissues include brain.

Description from OMIM:48 175100

Aliases & Classifications for Brain Tumor-Polyposis Syndrome 2

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Sources:
48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

brain tumor-polyposis syndrome 2 48 63


Related Diseases for Brain Tumor-Polyposis Syndrome 2

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Symptoms for Brain Tumor-Polyposis Syndrome 2

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Sources:
48OMIM
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Clinical features from OMIM:

175100

Drugs & Therapeutics for Brain Tumor-Polyposis Syndrome 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Brain Tumor-Polyposis Syndrome 2

Drug clinical trials:

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Genetic Tests for Brain Tumor-Polyposis Syndrome 2

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Anatomical Context for Brain Tumor-Polyposis Syndrome 2

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Sources:
34MalaCards
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MalaCards organs/tissues related to Brain Tumor-Polyposis Syndrome 2:

34
Brain

Animal Models for Brain Tumor-Polyposis Syndrome 2 or affiliated genes

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Publications for Brain Tumor-Polyposis Syndrome 2

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Variations for Brain Tumor-Polyposis Syndrome 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Brain Tumor-Polyposis Syndrome 2:

65 (show all 11)
id Symbol AA change Variation ID SNP ID
1APCp.Ser171IleVAR_005032
2APCp.Arg414CysVAR_005033rs137854567
3APCp.Ser784ThrVAR_005034
4APCp.Glu911GlyVAR_005038
5APCp.Pro1176LeuVAR_005044
6APCp.Thr1313AlaVAR_005051
7APCp.Arg1348TrpVAR_005053
8APCp.Ser2621CysVAR_005056rs72541816
9APCp.Leu2839PheVAR_005057
10APCp.Ser722GlyVAR_009614
11APCp.Ala1184ProVAR_009616

Clinvar genetic disease variations for Brain Tumor-Polyposis Syndrome 2:

1 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
2APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
3APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
4APCNM_000038.5(APC): c.1240C> T (p.Arg414Cys)single nucleotide variantPathogenic, Uncertain significancers137854567GRCh37Chr 5, 112154969: 112154969
5APCNM_000038.5(APC): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs137854568GRCh37Chr 5, 112151261: 112151261
6APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
7APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
8APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
9APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
10APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
11APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
12APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
13APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
14APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
15NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
16APCNM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs)deletionPathogenicrs121913224GRCh37Chr 5, 112175218: 112175222
17APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
18APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
19APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significance, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
20APCAPC, TYR486TERsingle nucleotide variantPathogenic
21APCNM_000038.5(APC): c.1311_1312+1delAAGdeletionPathogenicrs397514030GRCh37Chr 5, 112155040: 112155042
22APCNM_000038.5(APC): c.1098_1099delCT (p.Ser367Cysfs)deletionPathogenicrs387906237GRCh37Chr 5, 112154827: 112154828
23APCNM_000038.5(APC): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs387906238GRCh37Chr 5, 112154921: 112154922
24APCNM_000038.5(APC): c.3949G> C (p.Glu1317Gln)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers1801166GRCh37Chr 5, 112175240: 112175240
25APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
26APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
27APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325
28APCAPC, 11-BP INS, NT1060insertionPathogenic
29APCNM_000038.5: c.(?_1959)_*(2113_?)deldeletionPathogenic
30APCAPC, 5-BP DEL, NT3221deletionPathogenic

Expression for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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Pathways for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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Compounds for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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GO Terms for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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Products for genes affiliated with Brain Tumor-Polyposis Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brain Tumor-Polyposis Syndrome 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet