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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 **9551 - 9575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	AGRN	375790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PRPF8	10594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE2 CCR5 CD28 HLA-G ICAM1 IFNG IL10 IL17A IL5RA IL6 IL9 NGF NGFR PDCD1 SFTPA1 SFTPB SFTPC SFTPD TACR1 TLR4 TLR7 TLR8 TSLP	1234 3135 3383 3458 3568 3569 3578 3586 3605 4803 4804 51284 51311 5133 59272 6439 6440 6441 653509 6869 7099 85480 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:331	central nervous system disease	ACO2 GRIA1 GRIA2 GRIA3 GRIA4 HGF IL6 IRF2BP1 IRF2BP2 IRF2BPL SMARCA1 SMARCA5 TAOK1 TAOK2 TMEM63A TMEM63B TMEM63C	26145 2890 2891 2892 2893 3082 3569 359948 50 55362 57156 57551 64207 6594 8467 9344 9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	ATP7A ATP7B DTNBP1 TRPM6	140803 538 540 84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:9974	drug dependence	ABCB1 ACHE COMT CREB1 CYP2B6 NCAM1 OPRM1	1312 1385 1555 43 4684 4988 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111726	geleophysic dysplasia 2 Aliases: GPHYSD2	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060301	type I complement component 8 deficiency	C8A	731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	AP3B1 BDNF CCL2 CCR2 CCR5 CD28 CMA1 HGF IL1A IL1RN IL2 IL4R KIT MMP9 MPO MUC1 NGF NOS2 NR3C1 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TLR9	1215 1234 2908 3082 3552 3557 3558 3566 3815 4318 4353 4582 4803 4843 5054 54106 627 6347 6439 6440 6441 653509 7040 729230 8546 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 ADIPOQ AGER AGT ALPI ANKZF1 ANO6 B2M CD40LG EGFR EPB41 EPB41L1 EPB41L2 EPB41L3 FGF23 HSPA5 ICAM1 IGF2 IGFBP3 IL10 IL16 IL1RN IL21R IL2 IL2RA KLKB1 LTF MST1 MUC2 NOS2 NPSR1 PDGFB PDZD2 PIK3C3 RAB11A RAB11B RUNX3 SLC11A1 SLC6A14 ST6GALNAC1 STAT3 TGFB1 THEMIS TNF VEGFA	11254 177 183 1956 196527 2035 2036 2037 23037 23136 248 3309 3383 3481 3486 3557 3558 3559 3586 3603 3818 387129 387357 4057 4485 4583 4843 50615 5155 5289 55139 55808 567 6556 6774 6868 7040 7124 7422 8074 864 8766 9230 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2 Aliases: MLASA2	YARS2	51067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	SPTB SPTBN1 SPTBN2 SPTBN4	57731 6710 6711 6712	Homo sapiens (human)	Alliance of Genome Resources
DOID:4783	mesangial proliferative glomerulonephritis	FBN1 FGFR1 ITGA8 ITGAM NR4A1 PDGFD VWF	2200 2260 3164 3684 7450 80310 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111819	syndactyly type 5 Aliases: SDTY5 syndactyly with associated metacarpal and metatarsal fusion	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060482	oculoauricular syndrome	HMX1	3166	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2M ACAT1 ACE ALB ALOX5 APOA1 APOB APOC2 APOC3 APOE CD2AP CFI CFL1 COQ2 COQ6 CPB2 CTSL CTSV DGAT1 ECE1 EDNRA EPO FAT1 GAPVD1 GP1BA GPAM GPX1 GPX3 IGFALS IL1RN IL4 IL5 ITSN2 KCNJ1 KIRREL1 KIRREL2 KIRREL3 LIPC NOS1 NPHS1 NPHS2 NR3C1 PLA2G7 PLCE1 PPARGC1A PTGS2 SCNN1A SCNN1B SERPINC1 SGPL1 SH3KBP1 SOAT2 SOD2 STOM TFPI TNFRSF11B VLDLR	1072 10891 1361 1514 1515 1636 1889 1909 2 2040 2056 213 2195 23607 240 26130 27235 2811 2876 2878 2908 30011 335 338 3426 344 345 348 3483 3557 3565 3567 3758 38 3990 462 4842 4868 4982 50618 51004 51196 55243 5743 57678 6337 6338 6648 7035 7436 7827 7941 84063 8435 84623 8694 8879	Homo sapiens (human)	Alliance of Genome Resources

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