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 **176 - 200** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	ABAT CYP46A1 DGKD EXT1	10858 18 2131 8527	Homo sapiens (human)
DOID:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	245960	Rattus norvegicus (Norway rat)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	DIE2	853142	Saccharomyces cerevisiae S288C
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	algn-10	172855	Caenorhabditis elegans
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	100331575	Danio rerio (zebrafish)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	alg10	548946	Xenopus tropicalis (tropical clawed frog)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10	326193	Drosophila melanogaster (fruit fly)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	Alg10b Lrp5	16973 380959	Mus musculus (house mouse)
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4.L	108708472	Xenopus laevis (African clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	560605	Danio rerio (zebrafish)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	100158586	Xenopus tropicalis (tropical clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	41867	Drosophila melanogaster (fruit fly)
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	70551	Mus musculus (house mouse)
DOID:0050565	autosomal recessive nonsyndromic deafness	F38B6.6	185454	Caenorhabditis elegans
DOID:0050565	autosomal recessive nonsyndromic deafness	Tmtc4	290501	Rattus norvegicus (Norway rat)
DOID:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PRPS1 PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5631 5660 7007	Homo sapiens (human)
DOID:0050567	orofacial cleft	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:0050567	orofacial cleft	ACSS2	55902	Homo sapiens (human)
DOID:0050568	spondylocostal dysostosis Aliases: Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia	LFNG SLC35A3	23443 3955	Homo sapiens (human)
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)

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