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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 **326 - 350** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	INPP4B MASP1 OPCML SARM1	23098 4978 5648 8821	Homo sapiens (human)
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)
DOID:0060215	Balo concentric sclerosis Aliases: Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:0060218	CREST syndrome	CD22 FCGR3B MRC1	2215 4360 933	Homo sapiens (human)
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	ARSB CAT FUT1 IDUA	2523 3425 411 847	Homo sapiens (human)
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ABO ACADL ACE ACOT7 ACSS2 ADH1B AGPAT2 AKR1A1 ALDH2 AMACR ANXA4 ASAH1 ATP6AP2 CACNA2D1 CACNA2D4 CALR CAT CD14 CD44 CD55 CHAT CHGA CHI3L1 CNTN2 CNTN5 COG2 COG5 COL9A2 CPM CYP11B2 CYP1A2 CYP2C19 CYP2C9 CYP2J2 CYP3A4 CYP3A5 CYP4F2 DGKB DLD EFNA5 ENO2 EPHX2 FADS1 FADS2 FCGR3B GGT1 GLA GPD1L HSD11B1 HSD11B2 HSPG2 ICAM1 INPP5D INPPL1 ISYNA1 ITPK1 KCNQ1 KL LCAT LGALS3 LIPC NANS OLR1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G15 PLA2G7 PLCG1 PPP1R3A PRSS21 PTGS2 RECK RENBP RGMB RPE SELE SELP SLC2A3 SLC33A1 SLC35F1 SLC35G1 SLC39A8 SMPD1 SMUG1 SOAT1 STS SULT1E1 TLR2 TNF UST VCAM1 XXYLT1	10090 10159 10327 10466 10555 10942 1103 1113 1116 11332 125 1298 1368 142 152002 1544 1557 1559 1573 1576 1577 1585 159371 1604 1607 1636 1738 1946 2026 2053 217 2215 222553 22796 23171 23583 23600 23659 2678 2717 28 285704 307 3290 3291 33 3339 3383 3635 3636 3705 3784 3931 3958 3990 3992 412 427 4973 5130 51477 5290 5291 5293 5294 5311 5335 53942 54187 5506 55902 5743 5973 6120 6401 6403 64116 6515 6609 6646 6783 6900 7097 7124 7412 781 7941 811 8434 847 8529 9197 929 93589 9365 9415 960	Homo sapiens (human)
DOID:0060225	3MC syndrome Aliases: craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	MYORG	57462	Homo sapiens (human)
DOID:0060232	branchiootic syndrome Aliases: BO syndrome BOR branchiootic dysplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)
DOID:0060239	Van der Woude syndrome	CNTN2 CPO CYP2E1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRKAA2 PTGS2 UMOD	130749 1571 5290 5291 5293 5294 5315 5563 5743 6900 7369	Homo sapiens (human)
DOID:0060243	stuttering Aliases: familial persistent stuttering stammering	CYP19A1 DLD DPAGT1 GNPTAB GNPTG INPP5D NAGPA PTGDS	1588 1738 1798 3635 51172 5730 79158 84572	Homo sapiens (human)
DOID:0060245	Mast syndrome Aliases: SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060247	Smith-McCort dysplasia	AKR1C4 KL PTEN VCAN	1109 1462 5728 9365	Homo sapiens (human)
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	CD44 COLGALT1 GPC1 GPC3 GPC5 GPC6 HPRT1 NAMPT PIGA SLC2A4	10082 10135 2262 2719 2817 3251 5277 6517 79709 960	Homo sapiens (human)
DOID:0060249	scoliosis	ACADS ACAN AGA AGPAT2 AGRN ALDH3A2 ALG11 ALG14 ALG1 ALG2 ASAH1 ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 CD38 CHAT CHI3L1 CHST11 CHST14 CHST3 COG1 COG8 COLEC10 COLEC11 COMT CRPPA CYP7B1 DEGS1 DHCR7 DPAGT1 DPM2 EBP ENPP1 EXT1 EXT2 EXTL3 FKRP FKTN FUCA1 FUT8 GAD1 GALNS GAS1 GBA2 GFPT1 GLB1 GMPPB GNE GNPAT GNPTAB GNPTG GPC3 GPC5 GUSB HACD1 HGSNAT HSD17B4 HSPG2 IDH1 IDH2 IDUA INPP5E INPP5K INPPL1 LARGE1 LFNG MASP1 MTM1 MTMR2 NEU1 NGLY1 NSDHL OCRL PAPSS2 PCYT1A PGAP2 PGAP3 PGM3 PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PLOD3 PMM2 POMK POMT1 POMT2 PRPS1 PTDSS1 PTEN SDHB SDHC SDHD SGMS2 SLC26A2 SLC2A10 SLC35A2 SLC35A3 SYNJ1 TGDS TMEM165 XYLT1	10020 10159 10555 10584 10585 10682 1103 1116 11285 113189 126792 128869 1312 138050 145173 166929 1717 175 176 1798 1836 199857 2131 2132 2137 2218 224 2262 23443 23483 23545 2517 2530 2571 2583 2588 2619 26229 2673 2719 2720 27315 284098 2990 29925 29954 3295 3339 3417 3418 3425 35 3636 375790 3955 427 440138 4534 4758 4952 50515 50814 5130 51604 5167 51763 5238 5286 5290 5373 55650 55768 55858 56052 5631 5648 56623 5728 57704 6390 6391 6392 64131 729920 7355 78989 79147 79158 81031 84197 84342 8443 84572 84720 84992 85365 8560 8818 8867 8898 8985 9060 9200 9215 93210 9382 9420 9469 9487 952 9791	Homo sapiens (human)
DOID:0060250	idiopathic scoliosis	AACS ABO ACE ACHE ACSM1 ACSM3 ALG14 B4GALNT3 CACNA2D1 CDH13 CERS6 CHODL CHST9 CNTFR CYB5R3 DGKB ENPP3 GALNT11 GALNT16 GBE1 GFRA1 HSD17B12 IPMK ITPK1 KLRD1 LARGE1 LIPC ME3 MSMO1 OPCML PLCH1 SLC39A8 SMUG1 ST6GALNAC3 ST8SIA5 TMTC4	1012 10873 116285 1271 140578 1607 1636 1727 199857 23007 23583 253430 253782 256435 2632 2674 28 283358 29906 3705 3824 3990 43 4978 51144 5169 57452 6296 6307 63917 64116 65985 781 83539 84899 9215	Homo sapiens (human)
DOID:0060252	sclerocornea Aliases: isolated congenital sclerocornea	ARSD EFNA5 FIG4	1946 414 9896	Homo sapiens (human)

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