GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1051 - 1075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ATP6AP2 Ace Acer Ance-3 Ance Appl Atg6 Atpalpha CG31743 Calx Cht10 DAT Dop1R1 Dop1R2 Dop2R Egfr Eno GlcT Glut1 Hex-t1 Hex-t2 Hsc70-4 Hsepi Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 InR ItgaPS4 ItgaPS5 Jra Lar Ldh Mtp Nep1 Nep3 Nep4 Octbeta1R Octbeta2R Ogg1 Pdfr Ptp69D PyK Sh Snmp1 Snmp2 Sod3 Spn27A Spn28Dc Spn88Ea Tbh TkR99D Tsf2 dpp if sca scb sgg tor trol	117364 31002 31234 31248 31547 31718 31806 31926 326156 32661 32780 33005 33007 33351 33432 3355116 34091 34189 34805 34808 34978 34979 34981 35259 35362 35569 35717 36057 36232 36411 36692 36693 36849 36868 37104 37455 37516 37732 38109 38868 39435 39443 41104 41549 41625 41726 41840 42449 42481 42514 42549 42620 42652 42850 43191 43484 43551 45320 45815 45880 48971 49804	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ATP6AP2 Alg1 Alg3 Pmm2 beta4GalNAcTA	36585 37754 39436 41104 42146	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	ATP6AP2 Edem2 Pgant2 nac	33556 34714 40981 41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	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:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A1 ATP6V0A2 ATP6V0A4	23545 50617 535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	ATP6V0A1	535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6V0A2	23545	Homo sapiens (human)	Glyco-Disease Genes Database 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:0070472	early-onset epilepsy 3 Aliases: EPEO3	ATP6V0C	527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070140	autosomal recessive cutis laxa type IIC	ATP6V1E1	529	Homo sapiens (human)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	ATP7A ATP7B DTNBP1 TRPM6	140803 538 540 84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	ATP7A ATP7B LOX	4015 538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	ATP7A ATP7B	538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	ATP7A	538	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:2697	renal adenoma Aliases: renal cell adenoma	ATP7B	540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ATR ATRIP CDK5RAP2	545 55755 84126	Homo sapiens (human)	Alliance of Genome Resources

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