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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 **5926 - 5950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	NIPBL PDS5A SMC1A SMC3	23244 25836 8243 9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 CFC1B HSPG2 MED13L SLC19A1	23389 3339 55997 653275 6573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	ACE2 PTGS2	5743 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	A2M ALDOB ESR1 FOXP1 GUSB IL6 NPPA PLAT PLAU TNF	2 2099 229 27086 2990 3569 4878 5327 5328 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	MUTYH	4595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111800	syndromic microphthalmia 12 Aliases: MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects	RARB	5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	SLC44A4	80736	Homo sapiens (human)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	ALB APOC3 CD163 HLA-DRB1 HLA-DRB5 IFNG IL1RL1 IL2RA ITGB3	213 3123 3127 345 3458 3559 3690 9173 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	BDNF CLDN1 CRHR1 CRHR2 EFNB2 EPHB2 FOS GDNF HTR3A HTR7 LINC02210-CRHR1 MLXIPL NOS3 PDIA3 RNF43	104909134 1394 1395 1948 2048 2353 2668 2923 3359 3363 4846 51085 54894 627 9076	Homo sapiens (human)	Alliance of Genome Resources
DOID:12271	aniridia Aliases: Aplasia of iris isolated aniridia	ELP4	26610	Homo sapiens (human)	Alliance of Genome Resources
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	C1GALT1C1 CCL2 CD36 CD46 CFH F2 HP IL1RL1 IL1RN MBL2 PLA2G7 PLAT	2147 29071 3075 3240 3557 4153 4179 5327 6347 7941 9173 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
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:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGER EDN1	177 1906 50	Homo sapiens (human)	Alliance of Genome Resources
DOID:8488	polyhydramnios	LNPEP	4012	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060296	congenital secretory chloride diarrhea 1 Aliases: congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1	SLC26A3	1811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	DIAPH1	1729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	AGFG1 CFAP58 CFAP61 PPP4C SPATA20	159686 26074 3267 5531 64847	Homo sapiens (human)	Alliance of Genome Resources

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