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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 **3451 - 3475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060873	isolated growth hormone deficiency type IA Aliases: IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	ACAN ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 DDOST EXT1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1650 176 1890 2131 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	ACAN ACER3 AGA AGL ALDH3A2 ALDOA ALOX12B ALPL ALPP ARSB ASAH1 ATP6V0A2 ATP6V1A ATRNL1 B3GALT6 B3GAT3 B4GALT7 CD38 CERS3 CHST3 CHSY1 COG4 COG5 COG7 COL9A2 COLEC10 COMT CRYL1 CSGALNACT1 CTNS CTSA CYP11B1 CYP17A1 CYP19A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 DDOST DGCR2 DHCR24 DHCR7 DHDDS EBP EHHADH ENPP1 EXT1 EXT2 FIG4 FUCA1 FUT8 G6PC1 GALNS GAPDH GAS1 GBA1 GCK GFPT1 GK GLA GLB1 GM2A GMPPA GNPTAB GNPTG GPC3 GPD1 GUSB GYS2 H6PD HACD1 HPRT1 HSD11B2 HSD17B4 HSPG2 HYAL1 IDH1 IDH2 IDS IDUA INPP5K INPPL1 KDSR L1CAM LARGE1 LFNG MGAT2 MLYCD MSMO1 NEU1 OCRL OGDH PAPSS2 PCCA PCCB PCYT1A PGAP1 PGM1 PGM3 PIK3C2A PIK3CA PNPLA2 PNPLA6 PRPS1 PTDSS1 PTEN PYGL RFT1 SDHA SDHB SDHC SDHD SIRT6 SLC26A2 SLC2A2 SLC35A2 SLC35C1 SLC35G1 SLC37A4 SLC39A8 SMC3 SMPD1 SMPD3 SOAT1 STS SUCLA2 SULT1E1 SULT2B1 SUMF1 SYNJ1 TGDS TMEM165 UGDH VCAM1 XYLT1	10466 10584 10682 10908 11285 120227 126792 1298 1312 1497 1555 1557 1559 1584 1586 1588 159371 1594 1650 1717 1718 175 176 178 1836 1962 204219 2131 2132 224 226 22856 23417 23483 23545 242 249 250 2517 2530 2531 2538 2542 25839 2588 2597 26033 2619 26229 2629 2645 2673 2710 2717 2719 2720 2760 2819 285362 2990 29926 2998 3251 3291 3295 3339 3373 3417 3418 3423 3425 3636 3897 3955 411 412 4247 427 4758 4952 4967 5095 5096 51084 5130 51548 5167 51763 523 5236 5238 5286 5290 5476 55331 55343 55512 55790 55858 5631 57104 5728 5836 6307 6389 6390 6391 6392 64116 64131 6514 6609 6646 6783 6820 7355 7358 7412 79158 79947 80055 84572 8803 8867 9060 9126 91869 91949 9200 9215 9469 952 9563 9791 9896 9993	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACE ACSL4 ALG12 ALG8 ARSD ART3 B3GLCT CD14 CD44 CEACAM6 CHST15 CLEC7A COMT CRYBG1 CYP19A1 CYP1B1 CYP2C19 CYP2C9 CYP4F2 CYP4F3 DHCR24 DPM1 ENO1 FASN G6PC3 GLB1 GPC3 IDH1 INPP5E LGALS1 LGALS3 LGALS9 MASP1 MBL2 MSLN NAMPT NTNG1 PARP1 PDHX PIGN PIGQ PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTEN PTGES PTGIS PTGS2 RECK SMPD2 STS TALDO1 TFAP2B TKT UMPS	10135 10232 1312 142 145173 151056 1545 1557 1559 1588 1636 1718 202 2023 2182 2194 22854 23556 2719 2720 3417 3956 3958 3965 4051 412 414 4153 419 4680 51363 51604 5290 5291 5293 5294 5648 56623 5728 5740 5743 64581 6610 6888 7021 7086 7372 79053 79087 8050 8434 8529 8813 9091 92579 929 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9884	muscular dystrophy	ACAN ACE ACHE ACOT7 ACSL4 AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CD44 CHKA CHKB COL6A1 CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GNE GPC1 GPX3 HACD1 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SDC3 SI SIRT2 SLC3A1 ST3GAL4 ST8SIA4 SYNJ1 SYNJ2 TM7SF2 TNF VCAM1 VCAN XYLT1	10020 10329 10585 11041 1119 1120 11332 120071 124872 1291 142 1462 148738 148789 1497 1605 1634 1636 176 178 1800 2023 2182 2218 22933 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 55750 56983 5837 6383 64131 6476 6484 6519 7108 7124 729920 7412 7903 79147 84197 84892 8813 8818 8867 8871 8972 9104 9173 9200 9215 9365 9388 952 960 9672	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10138	xerophthalmia Aliases: Conjunctival xerosis	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1	1636 27159 27306 3383 38 3931 3958 4351 5067 5730 5743 6441 64834 6646 6785 9104	Homo sapiens (human)	DisGeNET
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 FAR2 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1 TLR2 TLR4	1636 27159 27306 3383 38 3931 3958 4351 5067 55711 5730 5743 6441 64834 6646 6785 7097 7099 9104	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:302	substance abuse	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:303	substance-related disorder	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 GSK3B HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 2932 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACO1 AGA ARSA ARSD B3GAT1 BST2 CAT CBR1 CD14 CD38 CHAT COMT CPT1B CYP17A1 CYP19A1 CYP2B6 ENO2 ENOSF1 FCGR3B GAD1 GAPDH GMPPA GPI GPX1 GPX3 HAS2 HPGDS HPSE2 ICAM1 IL1RL1 INPP5D LTA4H MRC1 NCAM1 NT5E PARP1 PARP4 PCYT1A PEMT PFKL PGD PIGP PIK3CD PIP4K2A PLA2G2D POFUT2 PRNP PRSS21 PTGS2 RENBP SHMT1 SHMT2 SOAT1 STS SUCLA2 SULT1E1 SYNJ1 SYNJ2 TNFRSF10C	10400 10942 1103 1312 1375 142 143 1555 1586 1588 175 2026 2215 23275 2571 2597 26279 27087 27306 2821 2876 2878 29926 3037 3383 3635 4048 410 412 414 4360 4684 48 4907 51227 5130 5211 5226 5293 5305 55556 5621 5743 5973 60495 6470 6472 6646 6783 684 847 873 8794 8803 8867 8871 9173 929 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	CERS1 CFC1 COMT DGCR2 GPC3 NT5E PTEN PTGS2 TMEM260 UGCG	10715 1312 2719 4907 54916 55997 5728 5743 7357 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	SDC1	6382	Homo sapiens (human)	DisGeNET
DOID:7475	diverticulitis	ARSA CHPT1 CLEC7A FOLR2	2350 410 56994 64581	Homo sapiens (human)	DisGeNET
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:10986	discitis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:5295	intestinal disease	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS	100507436 1048 10724 1087 142 1636 2538 2813 2990 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 79053 847 8694 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	ACE ALG8 CAT CD44 CEACAM5 CEACAM6 CEACAM7 COG6 DGAT1 G6PC1 GP2 GUSB IGF2 LCT LPIN2 LYZ MICA MUTYH NCAM1 OGA PARP1 PTGS1 PTGS2 REG1B SI STS VCAM1	100507436 1048 10724 1087 142 1636 2538 2813 2990 3481 3938 4069 412 4595 4680 4684 5742 5743 57511 5968 6476 7412 79053 847 8694 960 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SULT1E1	130749 1312 2629 27163 3340 410 6783 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET

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