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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 **1126 - 1150** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060302	type II complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0110240	cataract 20 multiple types Aliases: CTRCT20	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110843	xeroderma pigmentosum group A Aliases: XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A	CAT COMT CYP1A1 CYP1B1 HPGDS HPRT1 OGG1 PARP1 PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 142 1543 1545 23583 27306 3251 4968 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:0111152	multicentric Castleman disease Aliases: MCD PMCD multicentric giant lymph node hyperplasia plasmablastic multicentric Castleman disease	CD38 EBP MLYCD NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG	10682 23417 4684 5290 5291 5293 5294 952	Homo sapiens (human)
DOID:0110547	autosomal dominant nonsyndromic deafness 16 Aliases: DFNA16 autosomal dominant deafness 16	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:12185	otosclerosis	ACE SLC26A2	1636 1836	Homo sapiens (human)
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:0060119	pharynx cancer Aliases: pharyngeal neoplasm pharynx neoplasm	ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AKR1A1 CYP1A1 CYP2E1 PIK3CA	10327 124 125 126 127 128 131 1543 1571 5290	Homo sapiens (human)
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)
DOID:2914	immune system disease	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ALOX5 ANXA5 ARSD ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD55 CD74 CEACAM5 CHI3L1 CLC CLEC12A CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT ENO1 ENO2 ENO3 EXT1 EXT2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAL3ST1 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HPGDS HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 RENBP SCD SDC1 SELL SELP SIGLEC1 SLC35A1 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 1048 10559 10747 10855 11141 1116 1178 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 160364 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2215 2219 2220 2271 22914 22925 23205 23274 2350 23583 240 2517 2519 2523 2524 2542 2571 2572 2597 2645 2719 27306 2752 28 2821 2876 29071 308 3098 3251 3291 3339 3383 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5335 5336 5337 5563 56848 56913 57124 57126 5716 5728 5743 5973 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 847 8505 8807 8809 8877 912 9173 929 933 9514 952 960 972 9993	Homo sapiens (human)
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:11840	coronary artery vasospasm Aliases: Coronary Vasospasm Coronary artery spasm	ACE ALDH2 PLA2G7 PLCD1	1636 217 5333 7941	Homo sapiens (human)
DOID:0080089	tubular aggregate myopathy 1	CLEC10A CYP19A1 GFPT1 MTM1 MTMR14 OVGP1 SIRT4	10462 1588 23409 2673 4534 5016 64419	Homo sapiens (human)
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:5728	diffuse peritoneal leiomyomatosis Aliases: leiomyomatosis peritonealis disseminata	CYP19A1	1588	Homo sapiens (human)
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKA1 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5255 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
DOID:786	laryngeal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:5692	cellular myxoid liposarcoma Aliases: Round cell liposarcoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:11577	Cauda equina syndrome	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	ARSA CHIT1 CTSA CYP2U1 GALNS GLB1 NEU1 OGA	10724 1118 113612 2588 2720 410 4758 5476	Homo sapiens (human)
DOID:1800	neuroendocrine carcinoma	ABO ACOT7 ACSS2 ALG9 AMACR APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 DPEP1 ENO2 FH GFRA1 GM2A GPC3 HPSE IDH2 ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHA SDHB SDHC SDHD SELL SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 1800 2026 2271 22854 23583 23600 23659 2674 27087 2719 2760 28 3418 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6389 6390 6391 6392 6402 6713 7108 79796 811 945 960	Homo sapiens (human)

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