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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6676 - 6700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)
DOID:0111414	trichohepatoenteric syndrome Aliases: SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome THES Tricho-hepato-enteric syndrome phenotypic diarrhea syndromic diarrhea	ACE AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	ACE AGK AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 55750 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	ACSM3 ADH5 AGPAT2 CD44 CD55 CYP17A1 CYP19A1 CYP3A4 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 INPPL1 L1CAM LPL MMUT NT5E PIK3CA PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 SRD5A3 STS TYMP XYLT1	10555 10908 128 148738 1576 1586 1588 1604 1890 2619 2710 2817 3293 3636 3897 4023 412 4594 4907 5290 5373 55512 6296 64131 6646 79644 8482 9394 960	Homo sapiens (human)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Gys1 Gys2 Nhlrc1	105193 13853 14936 232493	Mus musculus (house mouse)
DOID:7566	eccrine porocarcinoma Aliases: Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma	CEACAM5	1048	Homo sapiens (human)
DOID:8826	colon carcinoma in situ Aliases: carcinoma in situ of colon stage 0 Colonic carcinoma	CEACAM5	1048	Homo sapiens (human)
DOID:9766	xanthogranulomatous cholecystitis	CEACAM5	1048	Homo sapiens (human)
DOID:2079	eccrine mixed tumor of skin Aliases: Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin	CEACAM5	1048	Homo sapiens (human)
DOID:5442	eccrine acrospiroma Aliases: Eccrine hidradenoma Eccrine hidradenoma of skin Poroma	CEACAM5	1048	Homo sapiens (human)
DOID:672	spleen cancer Aliases: Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm	CEACAM5	1048	Homo sapiens (human)
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	CEACAM5 HACD1	1048 9200	Homo sapiens (human)
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	CEACAM5 CEMIP MUTYH	1048 4595 57214	Homo sapiens (human)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	CEACAM5 FUT4 MCAT NTM	1048 2526 27349 50863	Homo sapiens (human)
DOID:5667	sweat gland carcinoma Aliases: carcinoma of the Sweat gland	CEACAM5 SMUG1	1048 23583	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:4551	anus benign neoplasm Aliases: anal neoplasm anal tumors neoplasm of anus	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:1789	benign peritoneal mesothelioma Aliases: Mesothelioma of Peritoneum	CEACAM5 FUT4 SDC1 SMUG1	1048 23583 2526 6382	Homo sapiens (human)
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	CEACAM5 NEU1 PIGN	1048 23556 4758	Homo sapiens (human)
DOID:8622	measles Aliases: morbilli	APRT ASAH1 CANX CCDC115 CEACAM5 FOLR2 GLB1 HPRT1 IL18R1 MRC1	1048 2350 2720 3251 353 427 4360 821 84317 8809	Homo sapiens (human)
DOID:7551	gonorrhea Aliases: chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract	ABO CAT CD44 CEACAM5 FDPS INPPL1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC1 UMPS	1048 2224 28 3636 4706 5290 5291 5293 5294 5743 6382 7372 847 960	Homo sapiens (human)
DOID:4531	mucoepidermoid carcinoma Aliases: MEC	ALDH3A1 CD44 CEACAM5 FUCA1 HPGDS PIK3CA PIK3CB PIK3CD PIK3CG PTGS1 PTGS2 STT3A	1048 218 2517 27306 3703 5290 5291 5293 5294 5742 5743 960	Homo sapiens (human)

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