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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070540	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Aliases: ECHS1D	ECHS1	1892	Homo sapiens (human)	Alliance of Genome Resources
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome Aliases: HYPER-IgD SYNDROME	MVK	4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	ILDR1	286676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ALG2 ATP6AP2 COG3 EDEM3 GALNT2 SLC37A4	10159 2542 2590 80267 83548 85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	GLI3 SHH	2737 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ACE APOA5 APOE CBS F2 F5 F7 FOLH1 GPX3 GRIN1 HLA-A HLA-B HLA-DRB1 HNF1A IFNB1 ITGA9 KALRN KCNN4 LIPG LTA MTR MYRF NR1H3 NTRK2 PARK7 PDX1 PON1 PON2 PRKCH PROS1 PTGIS SERPING1 TBXAS1 THBD TNF TOMM40 TYMS	10062 10452 11315 116519 1636 2147 2153 2155 2346 2878 2902 3105 3106 3123 3456 348 3651 3680 3783 4049 4548 4915 5444 5445 5583 5627 5740 6916 6927 7056 710 7124 7298 745 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:4677	keratitis	IL6 TLR4	3569 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090102	autosomal dominant isolated macrothrombocytopenia 1 Aliases: MACTHC1	TUBB1	81027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060985	preaxial polydactyly type IV Aliases: crossed polydactyly type 1	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	KDM6A	7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081181	autosomal recessive intellectual developmental disorder 5	NSUN2	54888	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	ABCC1 ACE ADAM33 ADRB1 ADRB2 BDKRB2 CCL1 CD86 CFTR CHRM3 CHRNA3 CHRNA5 CHRNA7 CLCA1 CRHR1 CTLA4 CYP1A1 CYP1A2 CYP2E1 DEFB1 EDN1 ELN F2RL1 GC GRIK5 GRIN2B HHIP HLA-DPB1 HTR2A IL12B IL13 IL13RA1 IL1RN LEP LEPR LRP1B MBL2 MMP9 NAT2 NOD2 NR3C1 PTGS2 SERPINA1 SERPINA3 SFTPA1 SFTPB SFTPC SFTPD SLC6A4 SOD3 TGFB1 TLR4 TNF XRCC5	10 1080 1131 1136 1138 1139 1179 12 1394 1493 153 154 1543 1544 1571 1636 1672 1906 2006 2150 2638 2901 2904 2908 3115 3356 3557 3593 3596 3597 3952 3953 4153 4318 4363 5265 53353 5743 624 6346 64127 6439 64399 6440 6441 6532 653509 6649 7040 7099 7124 7520 80332 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	GABBR2	9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	NPHP3 RPGRIP1L TMEM67	23322 27031 91147	Homo sapiens (human)	Alliance of Genome Resources

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