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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 **6851 - 6875** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)
DOID:576	proteinuria	Lepr Mgat5	107895 16847	Mus musculus (house mouse)
DOID:576	proteinuria	mgat5	724006	Danio rerio (zebrafish)
DOID:576	proteinuria	mgat5	100145551	Xenopus tropicalis (tropical clawed frog)
DOID:576	proteinuria	gly-2	172360	Caenorhabditis elegans
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:5769	verruciform xanthoma of skin Aliases: Cutaneous Verruciform Xanthoma Verruciform xanthoma	NSDHL	50814	Homo sapiens (human)
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	Trp53	22059	Mus musculus (house mouse)
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	ABO CALR CYP1A1 CYP2E1 CYP3A5 ENO1 MICA PTGS2 TM7SF2 TP53	100507436 1543 1571 1577 2023 28 5743 7108 7157 811	Homo sapiens (human)
DOID:580	uric acid nephrolithiasis Aliases: acute urate nephropathy	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 PRPS1 PTGS2 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 5631 5743 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP1	850906	Saccharomyces cerevisiae S288C
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)
DOID:582	hemoglobinuria	G6PD PIGA	2539 5277	Homo sapiens (human)
DOID:5823	childhood lymphoma Aliases: pediatric lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALPI ALPP ANXA5 CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C VCAM1 VTCN1	10462 1056 10998 1113 1312 1543 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 65078 6515 6646 6783 6900 7355 7412 7957 79679 83666 847 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:5825	adult lymphoma	ABO ACE ACOX1 ACSF3 ALOX12 ALOX15 ALPI ALPP ANXA5 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CEL CHGA CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP2B6 DGKZ ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GLB1 GPI GPX1 HEXA HMMR HPGDS HPSE HS3ST2 HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LY6K MBL2 MCAT MLYCD MRC1 MTAP NCAM1 NDUFAB1 NT5E PARP9 PIGK PIK3CA PIK3CB PIK3CD PIK3CG PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SELE SGPP1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 STS SULT1E1 TIGAR TMTC3 TNFRSF10C ULBP1 VCAM1 VTCN1	10026 10462 1056 10855 10998 1113 1312 1543 1555 1586 1604 160418 1636 197322 2026 2208 2215 2271 22914 2331 23417 23583 239 246 248 250 2539 2629 2720 27306 27349 28 2821 2876 3073 308 3161 3383 3417 3418 347734 3554 3635 3821 3824 3956 3958 412 4153 4360 4507 4684 4706 4860 4907 51 51477 5290 5291 5293 5294 54742 5506 55556 56848 57103 5728 5730 5743 6401 65078 6515 6646 6783 6900 7355 7412 7957 79679 80329 811 81537 83666 847 8525 8692 8794 8821 912 9126 9173 929 933 945 952 9536 960 962 972 9956	Homo sapiens (human)
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)
DOID:5828	endometrioid ovary carcinoma Aliases: Ovarian endometrioid carcinoma endometrioid carcinoma ovary	MRC1 PIK3CA PTEN PTGS2	4360 5290 5728 5743	Homo sapiens (human)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	ABO ALDH9A1 ALDOA CD55 DGKE FBP1 FOLR2 G6PD GALT GCLC GPI H6PD HK1 HPGDS LCAT PFKM PGK1 PGM3 PIGA PIGT PKLR PTGS2 SLC35A2 SMUG1 TPI1 UGCG UGT1A1	1604 2203 223 226 2350 23583 2539 2592 2729 27306 28 2821 3098 3931 51604 5213 5230 5238 5277 5313 54658 5743 7167 7355 7357 8526 9563	Homo sapiens (human)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	Pgk Zw	32974 33461	Drosophila melanogaster (fruit fly)

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