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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 **7176 - 7200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALG13 EPM2A HPRT1 IL1RAPL1 STS	11141 2181 2182 3251 412 7957 79868	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11 MASP1	5648 78989	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)	DisGeNET
DOID:6084	childhood ovarian germ cell tumor Aliases: paediatric Ovarian germ cell neoplasm paediatric ovarian germ cell tumour pediatric Ovarian germ cell neoplasm pediatric ovarian germ cell tumor	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	ACACA ALDH1A3 ALG1 ALPI ALPP APRT ARSA BST1 CD38 CD44 CD74 CEACAM5 CYP1A1 EFNA1 FOLR1 FOLR2 HPSE ICAM1 L1CAM MCAT MSLN MTAP NAGLU PARP1 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 RTN4R SMUG1 SPHK1 SPHK2 SRGN TBXAS1 TM7SF2 TPI1	10232 1048 10855 142 1543 1942 220 2348 2350 23583 248 250 27349 31 3383 353 3897 410 4507 4669 5209 5290 5291 5293 5294 5552 5563 56052 56848 5743 65078 683 6916 7108 7167 8877 952 960 972	Homo sapiens (human)	DisGeNET
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:13364	obsolete chronobiology disease	ACE	1636	Homo sapiens (human)	DisGeNET
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	ACAT1 CALR CD177 HMGCL NAAA PMM2	27163 3155 38 5373 57126 811	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9087	anal carcinoma in situ Aliases: anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus	CD44 CEACAM5 CYP2B6 MBL2 MPG MUTYH OGG1 PIK3CA SMUG1 ST8SIA4 SULF1	1048 1555 23213 23583 4153 4350 4595 4968 5290 7903 960	Homo sapiens (human)	DisGeNET
DOID:2347	generalized atherosclerosis Aliases: Generalised atherosclerosis	ABO ACE ACSM3 ARSA ATP6V0A2 CYP24A1 DGAT2 GPX3 HPGDS OLR1 PLA2G7 RENBP SELE	1591 1636 23545 27306 28 2878 410 4973 5973 6296 6401 7941 84649	Homo sapiens (human)	DisGeNET
DOID:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ACO2 ADH7 B3GALNT2 CRPPA DAG1 FKRP FKTN GNS HGSNAT HSD17B6 IDH3B INPP5E LARGE1 PCYT1A PGAP1 PGK1 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 PRPS1 RPE RXYLT1 SGSH SRD5A3	10329 10585 10908 131 138050 148789 1605 2218 2799 3420 50 5130 5230 55624 5631 56623 6120 6448 729920 79147 79644 80055 84197 84892 8630 9215	Homo sapiens (human)	DisGeNET
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)	DisGeNET
DOID:3674	kidney rhabdoid cancer Aliases: renal Rhabdoid tumor rhabdoid tumor of the kidney	CD44 PIK3CA PIK3CB PIK3CD PIK3CG SOAT1	5290 5291 5293 5294 6646 960	Homo sapiens (human)	DisGeNET
DOID:5750	endometrial serous adenocarcinoma Aliases: uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma	CD44 CD55 FOLR1 LSS MSLN NEU1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	10232 1604 2348 4047 4758 5290 5291 5293 5294 5728 960	Homo sapiens (human)	DisGeNET
DOID:3357	extraosseous osteosarcoma Aliases: extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0080211	nodal marginal zone lymphoma	CHIT1	1118	Homo sapiens (human)	DisGeNET
DOID:2024	placental choriocarcinoma Aliases: Choriocarcinoma of the Placenta	CYP19A1 STS	1588 412	Homo sapiens (human)	DisGeNET
DOID:5556	testicular malignant germ cell cancer Aliases: malignant germ cell tumor of testis	CYP1A1 CYP2B6 CYP3A5 CYP3A7 HPGDS PSMD10 SMUG1	1543 1551 1555 1577 23583 27306 5716	Homo sapiens (human)	DisGeNET
DOID:3458	breast adenocarcinoma Aliases: Mammary adenocarcinoma	ACSBG1 AKR1B1 ALDH3A1 ANXA5 CANX CAT CYP19A1 CYP1A1 CYP1B1 G6PD GPX1 HACD1 HK2 HPSE IDH1 INPP4B LGALS1 LYNX1 MMP17 NTHL1 PARP1 PIK3CA PIK3CB PKD1 PTEN PTGS2 SMUG1 TNF UGCG	10855 142 1543 1545 1588 218 231 23205 23583 2539 2876 308 3099 3417 3956 4326 4913 5290 5291 5310 5728 5743 66004 7124 7357 821 847 8821 9200	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5605	breast medullary carcinoma Aliases: Medullary breast carcinoma with lymphoid Stroma	MGLL	11343	Homo sapiens (human)	DisGeNET
DOID:3010	lobular neoplasia Aliases: Lobular Intraepithelial Neoplasia lobular carcinoma in situ	CYP2B6 CYP2C19 EPHX2 FUCA1 HPRT1 PTGS2 SMUG1	1555 1557 2053 23583 2517 3251 5743	Homo sapiens (human)	DisGeNET

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