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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 **4426 - 4450** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050793	short QT syndrome	CACNA2D1 KCNQ1	3784 781	Homo sapiens (human)
DOID:0050789	tarsal-carpal coalition syndrome	ABO ALOX5 CD44 CDH13 CYB5R3 GAPDH GLB1 HPGDS MRC1 NEU1 PLAUR PRSS8 PTEN PTGS2 TM7SF2 TNKS UPP2	1012 151531 1727 240 2597 2720 27306 28 4360 4758 5329 5652 5728 5743 7108 8658 960	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:0050787	juvenile polyposis syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:0050783	secondary progressive multiple sclerosis Aliases: SPMS Secondary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:0050782	Zollinger-Ellison syndrome	ACACA ACE ACLY AGPAT2 AKR1C3 ALDH2 AMY1A AMY1B AMY1C CA4 CANX CD14 CPT1A CRYL1 CS CYP17A1 CYP19A1 CYP1A2 DHDDS EHHADH ELOVL6 ENPP1 FASN FCGR3B FCN2 G6PC1 G6PC2 GCK GFPT1 GLA GLB1 GPX1 H6PD HADH HGSNAT HK2 HPGDS HSD11B1 IDH3A IDH3B KL LIPC LPIN1 LPL MELTF MGAT5 MPI NEIL1 OGT PDHX PFKFB1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PMM2 PNPLA2 PNPLA3 POMGNT1 PRKAA2 PTEN PTGDS RENBP SCD SFTPA1 SFTPA2 SFTPC SIGLEC7 SIRT4 SLC2A3 SLC2A4 ST3GAL4 TM7SF2 UGDH UGT1A1 VCAM1	10555 1374 138050 1431 1544 1586 1588 1636 1962 217 2194 2215 2220 23175 23409 2538 2645 2673 27036 2717 2720 27306 276 277 278 2876 3033 3099 31 3290 3419 3420 3990 4023 4241 4249 4351 47 51084 5167 5207 5290 5291 5293 5294 5310 5373 54658 55624 5563 57104 5728 5730 57818 5973 6319 6440 6484 6515 6517 653509 7108 729238 7358 7412 762 79071 79661 79947 80339 8050 821 8473 8644 929 9365 9563	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	ACE ALDH1A3 ALG9 APRT ARF4 B3GLCT CALR COMT CPT2 CYP4A11 DHCR7 GANAB GLA GPC3 INPP5E PGD PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKCSH PTGDS PTGS1 PTGS2 SELE SMC3 XYLT2	114780 1312 1376 145173 1579 1636 1717 220 23193 23556 2717 2719 342372 353 378 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5589 56623 5730 5742 5743 6401 64132 79796 811 9126	Homo sapiens (human)
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	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:0050775	schneckenbecken dysplasia	INPPL1 SLC35D1	23169 3636	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	ACACA CD44 CHGA CMAS CNTN4 DLST ENO2 FH GUSB IDH1 IDH2 MDH2 PARP1 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC25A11 SMUG1 SORD TYMP VCAM1	1113 142 152330 1743 1890 2026 2271 23583 2990 31 3417 3418 4191 55907 5728 5743 6389 6390 6391 6392 6652 7412 8402 960	Homo sapiens (human)
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD	10855 1113 1312 142 1431 152330 1636 1743 2271 23583 2539 2990 31 3417 3418 353 3897 3958 4191 48 51478 5290 5291 5293 5294 5311 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5290 5291 5293 5294 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:0050765	neuroacanthocytosis	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0050760	X-linked myopathy with excessive autophagy Aliases: XMEA	GNE PYGM	10020 5837	Homo sapiens (human)
DOID:0050759	myotonic dystrophy type 2	ACE ACHE ALPP ATRNL1 CHI3L1 CNTN2 CYP2B6 CYP51A1 DAG1 FASN GAL3ST1 GCK HSPG2 IDS IL18R1 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 PRNP QTRT1 SELE SELP SI SLC2A4 SLC35A1 SLC35G1 ST8SIA4 UGT8	10559 1116 1555 159371 1595 1605 1636 2194 23236 250 26033 2645 283871 3339 3423 4023 43 4360 4534 5226 5286 5290 5291 5293 5294 5563 5621 6401 6403 6476 6517 6900 7368 7903 81890 8776 8809 8972 9514	Homo sapiens (human)
DOID:0050757	deafness-dystonia-optic neuronopathy syndrome Aliases: Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Jensen syndrome Mohr-Tranebjaerg syndrome deafness dystonia syndrome	AKR1B1 CHGA MRC1 MUTYH PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SDHD SLC33A1 SMUG1 TPI1	1113 142 231 23583 4360 4595 5290 5291 5293 5294 6392 7167 9197	Homo sapiens (human)
DOID:0050754	ataxia with oculomotor apraxia type 1	IDH1 OGG1 PARP1 SDHA STS	142 3417 412 4968 6389	Homo sapiens (human)
DOID:0050753	cerebellar ataxia	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 L2HGDH MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PNPLA7 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 375775 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 79944 8398 847 9254 9374 9420	Homo sapiens (human)
DOID:0050749	peripheral T-cell lymphoma	CD1D CD44 CLEC10A CYP3A4 IDH1 IDH2 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNP SMUG1 SOAT1 TM7SF2	10462 1576 23583 3417 3418 3956 4507 4684 4860 5290 5291 5293 5294 6646 7108 912 960	Homo sapiens (human)

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