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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 **1251 - 1275** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACTR1A CBS CTSS DBN1 DOP1A DOP1B DSCAM DSCAML1 DYRK1A HSPD1 IGFBP3 MMP9 MTHFD1 PCNT POFUT2 RELN RPLP0 SNAP25 SOD1 SRSF4 SYNJ1 SYNJ2 TIMP1 TUBA1A	10121 1520 1627 1826 1859 23033 23275 3329 3486 4318 4522 5116 5649 57453 6175 6429 6616 6647 7076 7846 875 8867 8871 9980	Homo sapiens (human)	Alliance of Genome Resources
DOID:14228	oligospermia	TAF7	6879	Homo sapiens (human)	Alliance of Genome Resources
DOID:14227	azoospermia	BSCL2 CDC34 CDC42BPA CDC42BPB CDC42BPG ISYNA1 NDST1 NDST2 NDST3 NDST4 PTPRD PTPRF PTPRS RBBP4 SCAPER SNRPA1 UBE2R2	26580 3340 49855 51477 54926 55561 5789 5792 5802 5928 64579 6627 8476 8509 9348 9578 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	BAX FADD FAS LEP LPL	355 3952 4023 581 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	ATP6V0A1 ATP6V0A2 ATP6V0A4 CTSB CYP11B1 SLC4A1 SLC4A4	1508 1584 23545 50617 535 6521 8671	Homo sapiens (human)	Alliance of Genome Resources
DOID:14218	dihydropyrimidine dehydrogenase deficiency Aliases: Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea	DPYD	1806	Homo sapiens (human)	Alliance of Genome Resources
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:14184	polyneuropathy due to drug	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	IGF1R IGF2	3480 3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	EPAS1 MMP3 SLC18A1	2034 4314 6570	Homo sapiens (human)	Alliance of Genome Resources
DOID:1417	choroid disease	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	MYO9A	4649	Homo sapiens (human)	Alliance of Genome Resources
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	APOC2 LPL	344 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2M ACE ADM ADRB2 CCKBR CCL2 CD274 ELANE ENO2 F2 HLA-DRA HLA-DRB1 HSPA1B IFNG IL10 IL19 IL1RN MBL2 MC2R MIF NOS2 NPPC PDCD1 PROC PTX3 REN SELL SERPINC1 SERPINE1 SERPINF1 SERPING1 SFTPB TBXA2R TFPI THPO TNF TREM1	133 154 1636 1991 2 2026 2147 29126 29949 3122 3123 3304 3458 3557 3586 4153 4158 4282 462 4843 4880 5054 5133 5176 54210 5624 5806 5972 6347 6402 6439 6915 7035 7066 710 7124 887	Homo sapiens (human)	Alliance of Genome Resources
DOID:14095	boutonneuse fever Aliases: African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	CYP11B1	1584	Homo sapiens (human)	Alliance of Genome Resources
DOID:1407	anterior uveitis	C2 C3 CCL2 CCR1 CCR5 CD59 CFB CFH HLA-B IL1RN NOS2 TLR2 TLR4 TNF	1230 1234 3075 3106 3557 4843 629 6347 7097 7099 7124 717 718 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE2 NRG1	3084 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ABO ADAMTS13 CAST CYP2C19 FCGR2A G6PD HLA-DQB1 HP IL13 MBL2 TNF	11093 1557 2212 2539 28 3119 3240 3596 4153 7124 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	HLA-DQA1 HLA-DQB1 HLA-DRB1	3117 3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources

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