GlyCosmos Portal

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

Displaying entries **11001 - 11025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	Cul4b	72584	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	Cul3 Scnn1a Scnn1b Scnn1g Wnk1 Wnk2 Wnk3 Wnk4	20276 20277 20278 232341 26554 279561 69847 75607	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Ctss Mpz	24564 50654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Ctss Dscam Hspd1 Igfbp3 Mmp9 Pofut2 Reln Synj1 Timp1	116510 171119 24484 24718 309686 50654 63868 81687 85238	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Ctss Mpz Yars1	107271 13040 17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	Ctsk	29175	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	Ctsk	13038	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	Ctsf	56464	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	171293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	Ctsd Ppt1 Ppt2 Sod2	171293 24787 29411 54398	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	13033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	Ctsc	25423	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	Ctsc	13032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	Ctsb Glud1	13030 14661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	Ctsa	19025	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4989	pancreatitis	CtsL1 Spn28Dc TkR99D Tl smo	33196 34091 36546 43222 43551	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	CtsL1 InR Sod3 Spn28Dc Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36A1 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A2 Ugt37A3 Ugt37B1 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B1 Ugt49B2 kdn	31579 34091 35105 35137 35138 35139 36232 36546 37420 40079 41334 41573 41574 42538 42549 44058 53501 53502 53503 53506 53507 53511 53512 53583 53584	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10754	otitis media	CtsL1 Idua Nep1 Nep4 Tl btl htl	31547 34544 36546 39564 42160 42449 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CtsL1 Dg	36546 36773	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CtsF	40628	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	Ctns	83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Ctns Lrp2 Slc34a1	14725 20505 83429	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Ctns	42723	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	Ctns	42723	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	Ctnnd1	12388	Mus musculus (house mouse)	Alliance of Genome Resources

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