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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 **6751 - 6775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	XIAP	331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060864	patterned macular dystrophy 2 Aliases: MDPT2 butterfly-shaped pigmentary maculary dystrophy 2	CTNNA1	1495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110939	autosomal recessive osteopetrosis 5 Aliases: OPTB5 infantile malignant osteopetrosis 3	OSTM1	28962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	HK1	3098	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	HBB NOS3 VEGFA	3043 4846 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111471	combined oxidative phosphorylation deficiency 30 Aliases: COXPD30	TRMT10C	54931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	GRM6	2916	Homo sapiens (human)	Alliance of Genome Resources
DOID:12986	leukostasis	ACE SERPINF1	1636 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ADRB2 CCL2 CTLA4 CX3CL1 CXCR3 CYP11B1 HLA-DQB1 ICAM1 ICOS IL10 IL17A IL22 ITGB2 LCN2 MIF PPA1 PPA2 PTGER4 SPP1 STAT6 TNFRSF11A TNFRSF11B TNFSF11	1493 154 1584 1636 27068 2833 29851 3119 3383 3586 3605 3689 3934 4282 4982 50616 5464 5734 6347 6376 6696 6778 8600 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040089	autoimmune optic neuritis	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:4769	pleuropulmonary blastoma	DICER1 FGF9 YY1	2254 23405 7528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	DAB2 EDN1 MYH9 RHCG SLC38A3 SLC4A1	10991 1601 1906 4627 51458 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111853	primary ciliary dyskinesia 40 Aliases: CILD40 primary ciliary dyskinesia 40 with or without situs inversus	DNAH9	1770	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
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: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

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