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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 **8201 - 8225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060670	cerebral cavernous malformation 2	CCM2	83605	Homo sapiens (human)	Alliance of Genome Resources
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CFTR MBL2 MMP9 TAP1 TNF	1080 4153 4318 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	DKC1 TP53 TYMS	1736 7157 7298	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	GPR179	440435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:4905	pancreatic carcinoma Aliases: Exocrine pancreas carcinoma carcinoma of pancreas	CHD3 HNRNPA2B1 KDR KRAS MYC RAF1	1107 3181 3791 3845 4609 5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	ANKFY1 SACS	26278 51479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080828	VEXAS syndrome Aliases: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	ARHGAP17 BAX C3 CACNG4 CASP7 DSC2 FOS GP6 GPX3 GSK3B IFNG IL10 IL17A IL1RL1 IL4 IL6 ITGAM NDUFB5 PLCG1 PTEN RHOA SDHB SERPING1 TNF ZEB1	1824 2353 27092 2878 2932 3458 3565 3569 3586 3605 3684 387 4711 51206 5335 55114 5728 581 6390 6935 710 7124 718 840 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency Aliases: VLCAD deficiency	ACADL ACADVL	33 37	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23 Aliases: MC4DN23	COX11	1353	Homo sapiens (human)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	ATM H2AX SNAI1 TP53 XRCC1	3014 472 6615 7157 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AAAS HLA-DQA1 HLA-DQB1 LMNA NOS1 SPRY2 VIPR1	10253 3117 3119 4000 4842 7433 8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	SMARCAL1	50485	Homo sapiens (human)	Alliance of Genome Resources
DOID:8544	chronic fatigue syndrome Aliases: CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome	CCL24 CD28 CX3CL1 HLA-DQA1 IL16 KIR3DS1 PRF1 REN SERPINF1 SLC6A4 TRPC6 VEGFA	3117 3603 3813 5176 5551 5972 6369 6376 6532 7225 7422 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:10487	Hirschsprung's disease Aliases: Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis	ACHE CD14 EDNRB ERBB2 GDNF GFRA1 IHH ITGB1 KIT NGFR NTRK1 PINK1 RET SHH SLC2A1 STX1A WNT8B	1910 2064 2668 2674 3549 3688 3815 43 4804 4914 5979 6469 65018 6513 6804 7479 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070201	Miyoshi muscular dystrophy 3 Aliases: MMD3 Miyoshi myopathy 3	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABCB1 ACE ADIPOQ CAT CYP3A4 F2 IL6 LPA MEFV NOD2 POMC SERPINE1 THBD TLR4	1576 1636 2147 3569 4018 4210 5054 5243 5443 64127 7056 7099 847 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	BRWD3	254065	Homo sapiens (human)	Alliance of Genome Resources

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