GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **976 - 1000** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	324052	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1.L c1galt1c1.S	108700090 495031	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	c1galt1c1	448225	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	59048	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	C1galt1c1	302499	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	CG34057	3885645	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)	DisGeNET
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 51102 51227 51477 5211 523 5277 5286 54732 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	ALDH7A1 RPE STS	412 501 6120	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110827	Usher syndrome type 2 Aliases: USH2	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)	DisGeNET
DOID:0110828	Usher syndrome type 3 Aliases: USH3	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	ARSG	22901	Homo sapiens (human)	DisGeNET
DOID:0050439	Usher syndrome	ALDH7A1 ARSG ASAH1 PLD4	122618 22901 427 501	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14679	VACTERL association	ENOSF1 IL18R1 OGG1 PIK3CA PTEN	4968 5290 55556 5728 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5574	VIPoma Aliases: VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0060239	Van der Woude syndrome	CNTN2 CPO CYP2E1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRKAA2 PTGS2 UMOD	130749 1571 5290 5291 5293 5294 5315 5563 5743 6900 7369	Homo sapiens (human)	DisGeNET
DOID:9584	Venezuelan equine encephalitis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources

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