GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **4626 - 4649** of **4649** in total

« First

‹ Prev

…

182

183

184

185

186
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112018	non-syndromic X-linked intellectual disability 104 Aliases: MRX104 X-linked mental retardation 104	FRMPD4	9758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112243	congenital symmetric circumferential skin creases 2 Aliases: CSCSC2	MAPRE2	10982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	TNFRSF1A TNFRSF1B	7132 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080608	anterior segment dysgenesis 3	FOXC1	2296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110402	retinitis pigmentosa 45 Aliases: RP45	CNGB1	1258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:2527	nephrosis	ACE ANGPT1 ANGPT2 CAT CCL1 CCL7 CD36 CD59 CFH CX3CL1 CYP11A1 CYP27B1 EDN1 F2 GATA3 GPX1 HAVCR1 LAMB2 LRP2 NES NPPA NPPB PDPN PTPRU SREBF2 VIM	10076 10630 10763 1583 1594 1636 1906 2147 2625 26762 284 285 2876 3075 3913 4036 4878 4879 6346 6354 6376 6721 7431 847 948 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	NOS3 TACR1	4846 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	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:1002	endometritis	CASP6 CASP7 CASP9 IL1A	3552 839 840 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements