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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 **7401 - 7425** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050949	autosomal recessive hypophosphatemic rickets	ENPP1 GALNT3 IDUA	2591 3425 5167	Homo sapiens (human)
DOID:0050948	autosomal dominant hypophosphatemic rickets	ENPP1 GALNT8 KLB	152831 26290 5167	Homo sapiens (human)
DOID:0050933	ovarian serous carcinoma	NCAM1 PTEN	4684 5728	Homo sapiens (human)
DOID:0050912	colon adenoma	Rbp4	19662	Mus musculus (house mouse)
DOID:0050912	colon adenoma	Rbp4	25703	Rattus norvegicus (Norway rat)
DOID:0050912	colon adenoma	CHKA RBP4	1119 5950	Homo sapiens (human)
DOID:0050912	colon adenoma	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)
DOID:0050908	myelodysplastic syndrome	Idh1 Tnf Trp53	15926 21926 22059	Mus musculus (house mouse)
DOID:0050908	myelodysplastic syndrome	Idh1 Tnf Tp53	24479 24835 24842	Rattus norvegicus (Norway rat)
DOID:0050908	myelodysplastic syndrome	IDP1 IDP2 IDP3	850871 851493 855723	Saccharomyces cerevisiae S288C
DOID:0050908	myelodysplastic syndrome	ABAT ABO ACE ACHE ACSL5 ACSL6 ALOX5 ALPI ALPP AMACR ANXA5 ARSH BAAT CALR CD14 CD177 CD22 CD33 CD38 CD48 CD55 CFC1 CHST9 CLEC12A COLEC10 CPT1A CPT2 CYP1B1 CYP2B6 CYP2E1 CYP3A5 EBP FCGR3B FUT1 FUT4 G6PC3 G6PD GGT1 GPI GPX3 GYS1 HAS2 HJV HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IL18R1 INPP5D LGALS9 NAAA NAGLU NANS NCAM1 OGG1 PAFAH1B1 PARP1 PDIA3 PGK1 PGP PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G4A PLA2R1 PLCB1 PLCB4 PLCE1 PLCG1 POGLUT1 PTEN SFTPA1 SLC17A5 SMPD3 SOAT1 SPHK1 STS TNF TNFRSF10C TP53	10584 10682 10855 1374 1376 142 148738 1545 1555 1571 1577 160364 1604 1636 18 2215 22925 23236 23305 23556 23600 240 248 250 2523 2526 2539 26503 2678 27163 27306 28 2821 283871 2878 2923 2997 3037 308 3383 3417 3418 347527 3635 3965 412 43 4669 4684 4968 5048 51196 51703 5230 5277 5290 5291 5293 5294 5305 5321 5332 5335 54187 55512 55997 56983 570 57126 5728 60495 653509 6646 7124 7157 811 83539 8794 8809 8877 92579 929 933 945 952 962	Homo sapiens (human)
DOID:0050905	inflammatory myofibroblastic tumor	ACE AMACR IL1R1 PIK3CA PTGS2 SMUG1	1636 23583 23600 3554 5290 5743	Homo sapiens (human)
DOID:0050904	salivary gland carcinoma	PTGS1	5742	Homo sapiens (human)
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Trp53	22059	Mus musculus (house mouse)
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	ABO ACHE ALOX5 AMACR APRT ASAH1 CALR CANX CD1D CD38 CHGA CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 ENO2 FOLR1 FUT4 GPC3 GYS2 HK2 HMMR HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MELTF MMUT MRC1 NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TP53 TREH UGCG VCAN	10855 1113 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2026 2348 23600 240 2526 27036 2719 27306 28 2998 3099 3161 3417 3418 3425 353 3939 3945 4241 427 43 4360 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 7157 7357 79947 811 821 8658 912 952	Homo sapiens (human)
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0050894	ameloblastoma	CD44 DAG1 GGT1 GPC1 GPC3 HPSE HSPG2 MOGS PTGS2 RECK SDC1 SDC2	10855 1605 2678 2719 2817 3339 5743 6382 6383 7841 8434 960	Homo sapiens (human)
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi	43582	Drosophila melanogaster (fruit fly)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	Tpi1	21991	Mus musculus (house mouse)

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