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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 **1701 - 1725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	ACSF3 ALDH6A1 MCEE MMUT PIK3CA SUCLA2 SUCLG1 SUCLG2	197322 4329 4594 5290 84693 8801 8802 8803	Homo sapiens (human)
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	ACSL1 DGKA DGKB DGKG DHCR24 G6PC1 GCK HK1 HK2 HK3 HKDC1 IRS2 PIK3CB PIK3CD SLC2A2 TLR4	1606 1607 1608 1718 2180 2538 2645 3098 3099 3101 5291 5293 6514 7099 80201 8660	Homo sapiens (human)
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)
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)
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	ACSL3 B3GLCT CHSY1 FIG4 MAN1B1 MMUT PIK3CA PTDSS1	11253 145173 2181 22856 4594 5290 9791 9896	Homo sapiens (human)
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	ACSL4 AGA AKR1C1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ARSI ATP6AP2 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CHAT CHST14 CHST3 COG1 COG4 COG8 COMT CPT2 CYP1A1 DHCR24 DPAGT1 DPM3 DSE EBP EOGT EXT1 EXT2 FASN GFPT1 GMPPB GNPTAB GPC3 GUSB HACD1 HADHA HADHB HS6ST1 HSD17B4 HSPG2 IL1RAPL1 INPP5E L1CAM MGAT2 MTMR2 PI4KA PLOD3 PMM2 POMT1 PTEN RFT1 SC5D SLC26A2 SLC35A2 SMC3 TGDS XYLT1 XYLT2	10159 10195 10585 10682 1103 11141 11285 113189 126792 1312 1376 1543 1645 1718 175 1798 1836 199857 2131 2132 2182 2194 23483 23545 25839 26229 2673 2719 285203 2990 29925 29940 3030 3032 3295 3339 340075 3897 4247 523 5297 5373 54344 56623 5728 6309 64131 64132 7355 79053 79087 79158 79868 84342 85365 8898 8985 9126 91869 9200 9382 9394 9469	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:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ACSL4 AKR1B1 ANXA7 ARSA CD44 CEACAM5 CEACAM7 CYP1A1 CYP24A1 CYP3A4 DHRS11 DLD FUT10 FUT2 FUT3 FUT4 GALNT6 HSD17B7 LDHA LGALS3 LGALS4 MUTYH PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PLB1 PLCB1 PLD2 PTGS2 SDC2 SLC2A5 SLC5A1 SOAT1 ST6GAL1 SULT1E1 TM7SF2 UGT1A1	1048 1087 11226 151056 1543 1576 1591 1738 2182 231 23236 2524 2525 2526 283871 310 3939 3958 3960 410 4595 51478 5290 5291 5293 5294 5320 5329 5338 54658 5743 6383 6480 6518 6523 6646 6783 7108 79154 8399 84750 960	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)
DOID:9487	Meckel's diverticulum Aliases: Meckel Diverticulum Persistent vitelline duct	ACSL4 ALG13 GPC3 IL1RAPL1	11141 2182 2719 79868	Homo sapiens (human)
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:5268	myxoid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:4840	sebaceous carcinoma Aliases: Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:2095	sweat gland cancer Aliases: malignant neoplasm of sweat gland malignant tumor of the Sweat gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:0060774	congenital diarrhea	ACSL5	51703	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:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MACROD2 MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 140733 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0090072	hypogonadotropic hypogonadism 12 with or without anosmia Aliases: familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)

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