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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 **11026 - 11050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050904	salivary gland carcinoma	KDR PTGS1	3791 5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	MYO6	4646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110392	retinitis pigmentosa 70 Aliases: RP70	PRPF4	9128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070121	Meckel syndrome 7 Aliases: MKS7 Meckel-Gruber syndrome, type 7	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080591	Klippel-Feil syndrome 3	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	DNAAF4 WNT5A	161582 7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	CD3D DCLRE1C IL2 IL2RG IL7R JAK3 PRKDC PTPRC RFX5 TAPBP ZAP70	3558 3561 3575 3718 5591 5788 5993 64421 6892 7535 915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	SPG7	6687	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	TJP2	9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:13929	lacrimal duct obstruction Aliases: Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts	IGSF3	3321	Homo sapiens (human)	Alliance of Genome Resources
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL ANGPT1 CTNNB1 ESR1 IGF2R IGFBP6 MKI67 PDGFRA PDPN POU5F1 PTEN PTGES PTGS2 RB1 RUNX3 SFN SFRP1 XRCC1	10630 1499 207 2099 240 249 2810 284 3482 3489 4288 5156 5460 5728 5743 5925 6422 7515 864 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050887	Townes-Brocks syndrome	DACT1 SALL1	51339 6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:636	central pontine myelinolysis Aliases: osmotic demyelination syndrome	AQP1 AQP4	358 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	FAS FBN1 HLA-DRB1 IFNG SNRPB SNRPC TNF	2200 3123 3458 355 6628 6631 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	29929	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110373	retinitis pigmentosa 61 Aliases: RP61	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090103	Huntington's disease-like 1 Aliases: HDL1 HLN1 Huntington disease-like 1 Huntington-like neurodegenerative disorder 1 autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:2344	polyclonal hypergammaglobulinemia	COPG1	22820	Homo sapiens (human)	Alliance of Genome Resources
DOID:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources

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