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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3401 - 3425** of **4649** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	PMPCB UQCRC1	7384 9512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABCG2 ACE ALB APOE B2M CBL CCN1 CD40 CD40LG CD46 CD86 CFHR1 CHI3L1 CTLA4 CYP1A1 CYP2C19 DSG2 ENG EXOSC2 FASLG FCGR2A FGG FLT3LG FTO GPX1 GPX3 HFE HK1 ICAM1 IGF2R IL10 IL1A IL1RN IL4R IRF4 KRAS MEFV MET MTR NONO NOTCH2 NOX1 NRAS PON1 RANBP2 ROBO1 SOD2 SPARC SPP1 TERT TFRC TGFB1 TNF TNFRSF10A TNFRSF17 TP53 TYMS VEGFA XPO5 XRCC5	1116 1493 1543 1557 1636 1829 2022 213 2212 2266 2323 23404 27035 2876 2878 3077 3078 3098 3383 348 3482 3491 3552 3557 356 3566 3586 3662 3845 4179 4210 4233 4548 4841 4853 4893 5444 567 57510 5903 608 6091 6648 6678 6696 7015 7037 7040 7124 7157 7298 7422 7520 79068 867 8797 942 9429 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2M ACAN ACHE ADIPOQ AGER AGT APOA1 APOC2 B4GALT5 B4GALT6 BDNF CACNA1B CCL1 CCL2 CCL5 CCL7 CCR3 CCR5 CD24 CD28 CD40 CD46 CD86 CIITA CLEC16A COL1A1 CTLA4 CTSB EDN1 FAS FASLG FCGR2A FCGR3A GABRA3 GC GLI1 GRM8 GRN H6PD HDAC1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HSP90AB1 HSPA8 IFNB1 IFNG IGF2 IL13 IL17A IL21R IL23R IL2RA IL4 IL4R IL6 IRF5 JAG1 KIF1B LRCH1 MAG MBP MMP12 MMP9 MOG MPHOSPH9 NECTIN2 NEFH NEFL NGFR NOTCH4 PDCD1 PHACTR2 PLA2G7 PRF1 PTPRC RGMA RHOA SHH SLC11A1 SPP1 TLR4 TNF TNFRSF1A	100133941 10198 1232 1234 1277 149233 1493 1508 176 177 182 183 1906 2 2212 2214 23095 23143 23274 2556 2638 2735 2896 2918 3065 3115 3117 3119 3122 3123 3125 3312 3326 335 344 3456 3458 3481 355 3559 356 3565 3566 3569 3596 3605 3663 387 4099 4155 4179 4261 43 4318 4321 4340 4744 4747 4804 4855 50615 5133 5551 56963 5788 5819 627 6346 6347 6352 6354 6469 6556 6696 7099 7124 7132 774 7941 9331 9334 9370 940 942 9563 958 9749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081317	multiple synostoses syndrome 1	GDF5 NOG	8200 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081318	multiple synostoses syndrome 2	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081319	multiple synostoses syndrome 3	FGF9	2254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	FGF9 GDF5	2254 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	AMBRA1 COQ2 FAS IGF2 KLK6 SLC1A1 SLC6A6 SNCA	27235 3481 355 55626 5653 6505 6533 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060772	multiple types of congenital heart defects 6 Aliases: DTGA3 dextro-looped transposition of the great arteries 3	GDF1	2657	Homo sapiens (human)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:66	muscle tissue disease	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CAST CFL1 CHUK COL1A2 CRHR2 CTSL CTSV DAG1 DMD GHR HSF1 HSP90AB1 IKBKB KRAS MSTN MTMR4 MTOR NEDD4 NR3C1 RELB RPS6KB1 SERPINE1 SGCA TFRC TGIF1 TIMM23 TRIM63	100287932 1072 1147 1278 1395 1514 1515 1605 1756 2475 2660 2690 2908 3297 3326 3551 3845 4734 5054 5971 6198 6442 7037 7050 831 84676 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080000	muscular disease	ACACA ACACB CLU CPT2 FASN HMGCR ITGA7 LPL	1191 1376 2194 31 3156 32 3679 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A1 COL6A3 DAG1 DMD FKRP FKTN LAMA1 LAMA2 LMNA LMNB1 LMNB2 POMGNT1 POMT1 POMT2 POPDC3 SGCA SGCB SGCD SGCG SGCZ SNTB2 SYNE1 TNF TRIM63 UTRN	10585 1120 1291 1293 137868 1605 1756 2218 23345 284217 29954 3908 4000 4001 55624 64208 6442 6443 6444 6445 6645 7124 7402 79147 825 84676 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4GAT1 DAG1 FKRP FKTN INPP5K LARGE1 POMGNT1 POMT1	10585 11041 1605 2218 51763 55624 79147 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	LARGE1	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources

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