Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	APC REGULATOR OF WNT SIGNALING PATHWAY
Synonyms	BREAST CANCER, SUSCEPTIBILITY TO COLORECTAL CANCER, SOMATIC GASTRIC CANCER, SOMATIC GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA FAMILIAL ADENOMATOUS POLYPOSIS 1 FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO APC FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED DP2.5 BRAIN TUMOR-POLYPOSIS SYNDROME 2 HEPATOBLASTOMA, SOMATIC HEPATOCELLULAR CARCINOMA, SOMATIC DESMOID DISEASE, HEREDITARY DELETED IN POLYPOSIS 2.5 GARDNER SYNDROME ADENOMA, PERIAMPULLARY, SOMATIC DESMOID TUMOR, SOMATIC APC GENE
ID	http://purl.bioontology.org/ontology/OMIM/611731
altLabel	BREAST CANCER, SUSCEPTIBILITY TO COLORECTAL CANCER, SOMATIC GASTRIC CANCER, SOMATIC GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA FAMILIAL ADENOMATOUS POLYPOSIS 1 FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO APC FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED DP2.5 BRAIN TUMOR-POLYPOSIS SYNDROME 2 HEPATOBLASTOMA, SOMATIC HEPATOCELLULAR CARCINOMA, SOMATIC DESMOID DISEASE, HEREDITARY DELETED IN POLYPOSIS 2.5 GARDNER SYNDROME ADENOMA, PERIAMPULLARY, SOMATIC DESMOID TUMOR, SOMATIC APC GENE
cui	C0162832 C1860985 C4017261 C1833970 C2673224 C1851124 C1868001 C1969388 C0017097 C1861807 C2673229 C4015935 C4017262 C0032580 C3469522 C2673218
Gene Locus	5q22.2
Gene Symbol	APC FPC GS BTPS2 DESMD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/611731.0022 http://purl.bioontology.org/ontology/OMIM/611731.0024 http://purl.bioontology.org/ontology/OMIM/611731.0021 http://purl.bioontology.org/ontology/OMIM/611731.0026 http://purl.bioontology.org/ontology/OMIM/611731.0025 http://purl.bioontology.org/ontology/OMIM/611731.0028 http://purl.bioontology.org/ontology/OMIM/611731.0023 http://purl.bioontology.org/ontology/OMIM/611731.0027 http://purl.bioontology.org/ontology/OMIM/611731.0020 http://purl.bioontology.org/ontology/OMIM/611731.0029 http://purl.bioontology.org/ontology/OMIM/611731.0011 http://purl.bioontology.org/ontology/OMIM/611731.0016 http://purl.bioontology.org/ontology/OMIM/611731.0017 http://purl.bioontology.org/ontology/OMIM/611731.0015 http://purl.bioontology.org/ontology/OMIM/611731.0014 http://purl.bioontology.org/ontology/OMIM/611731.0013 http://purl.bioontology.org/ontology/OMIM/611731.0012 http://purl.bioontology.org/ontology/OMIM/611731.0010 http://purl.bioontology.org/ontology/OMIM/611731.0018 http://purl.bioontology.org/ontology/OMIM/611731.0019 http://purl.bioontology.org/ontology/OMIM/611731.0039 http://purl.bioontology.org/ontology/OMIM/611731.0036 http://purl.bioontology.org/ontology/OMIM/611731.0033 http://purl.bioontology.org/ontology/OMIM/611731.0030 http://purl.bioontology.org/ontology/OMIM/611731.0034 http://purl.bioontology.org/ontology/OMIM/611731.0031 http://purl.bioontology.org/ontology/OMIM/611731.0037 http://purl.bioontology.org/ontology/OMIM/611731.0038 http://purl.bioontology.org/ontology/OMIM/611731.0032 http://purl.bioontology.org/ontology/OMIM/611731.0035 http://purl.bioontology.org/ontology/OMIM/611731.0009 http://purl.bioontology.org/ontology/OMIM/611731.0003 http://purl.bioontology.org/ontology/OMIM/611731.0005 http://purl.bioontology.org/ontology/OMIM/611731.0008 http://purl.bioontology.org/ontology/OMIM/611731.0002 http://purl.bioontology.org/ontology/OMIM/611731.0004 http://purl.bioontology.org/ontology/OMIM/611731.0007 http://purl.bioontology.org/ontology/OMIM/611731.0001 http://purl.bioontology.org/ontology/OMIM/611731.0006 http://purl.bioontology.org/ontology/OMIM/611731.0040 http://purl.bioontology.org/ontology/OMIM/611731.0045 http://purl.bioontology.org/ontology/OMIM/611731.0049 http://purl.bioontology.org/ontology/OMIM/611731.0043 http://purl.bioontology.org/ontology/OMIM/611731.0046 http://purl.bioontology.org/ontology/OMIM/611731.0047 http://purl.bioontology.org/ontology/OMIM/611731.0048 http://purl.bioontology.org/ontology/OMIM/611731.0042 http://purl.bioontology.org/ontology/OMIM/611731.0044 http://purl.bioontology.org/ontology/OMIM/611731.0052 http://purl.bioontology.org/ontology/OMIM/611731.0051 http://purl.bioontology.org/ontology/OMIM/611731.0056 http://purl.bioontology.org/ontology/OMIM/611731.0055 http://purl.bioontology.org/ontology/OMIM/611731.0050 http://purl.bioontology.org/ontology/OMIM/611731.0057 http://purl.bioontology.org/ontology/OMIM/611731.0054 http://purl.bioontology.org/ontology/OMIM/611731.0053
MIMTYPEMEANING	Gene with known sequence
notation	611731
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	APC REGULATOR OF WNT SIGNALING PATHWAY
tui	T047 T033 T191 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D017491	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C535944	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C566775	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10017727	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/70921007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C566778	MESH	CUI
http://purl.bioontology.org/ontology/LNC/LP19474-3	LOINC	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017491	MSHFRE	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000043572	PDQ	CUI
http://purl.bioontology.org/ontology/MDRFRE/10017727	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/60876000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/2010-0350	CRISP	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001310	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005736	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005736	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10017727	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01039	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/60876000	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/XaEDW	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/M-82200	SNMI	CUI
http://purl.bioontology.org/ontology/MSTDE-FRE/MT220034	MSTDE-FRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/D13.91	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10059327	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10036135	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D011125	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/423471004	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/72900001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICPC2P/D78004	ICPC2P	CUI
http://purl.bioontology.org/ontology/CSP/2010-0350	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10059327	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D5-45490	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10057848	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70921007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/BB5N0	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10036135	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10057848	MDRFRE	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042839	PDQ	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056981	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10056981	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D011125	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002457	NDFRT	CUI
http://purl.bioontology.org/ontology/MSTDE/MT220034	MSTDE	CUI
http://purl.bioontology.org/ontology/SCTSPA/72900001	SCTSPA	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725405	PDQ	CUI
http://purl.bioontology.org/ontology/MEDDRA/10036135	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/4005-0002	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10059327	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056981	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/XE2xj	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/423471004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/4006-0027	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10057848	MEDDRA	CUI
http://www.orpha.net/ORDO/Orphanet_123393	ORDO	LOOM