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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 **3576 - 3600** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080689	mosaic variegated aneuploidy syndrome 3	TRIP13	9319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE BDNF EDN1 HSPD1 MYOC OPTN SLC1A1 SLC1A3 SOD1 TLR4 TNF TP53	10133 153 1906 3329 348 4653 627 6505 6507 6647 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070281	primary autosomal recessive microcephaly 19 Aliases: MCPH19	COPB2	9276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080685	aortic dissection	ACTA1 EFEMP2 EPHB1 NONO SPP1	2047 30008 4841 58 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:962	neurofibroma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111102	maturity-onset diabetes of the young type 3 Aliases: MODY type 3 MODY3	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	TRHR	7201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050954	spinocerebellar ataxia type 1	ATXN1	6310	Homo sapiens (human)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:11983	Prader-Willi syndrome Aliases: Prader Willi syndrome	GHRL HTR2C MAGEL2	3358 51738 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110402	retinitis pigmentosa 45 Aliases: RP45	CNGB1	1258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources
DOID:13133	HELLP syndrome	ADAMTS13 CD40LG ERBB2 FAS FASLG	11093 2064 355 356 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	AGT ATF1 C9 CFB CTSB CTSH DLL4 EPAS1 GANAB GNAS GPBAR1 HDAC6 HIF1A KIF3A MTOR MYC NOS3 NPPB PKD1 PKD2 PLA2G4A PPARG PTGS1 PTGS2 PTMA SOD1 STAM2 TNC XYLT2	10013 10254 11127 1508 1512 151306 183 2034 23193 2475 2778 3091 3371 4609 466 4846 4879 5310 5311 5321 54567 5468 5742 5743 5757 629 64132 6647 735	Homo sapiens (human)	Alliance of Genome Resources
DOID:2997	Sertoli-Leydig cell tumor	INHA	3623	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	SAMHD1	25939	Homo sapiens (human)	Alliance of Genome Resources

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