GlyCosmos Portal

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

Displaying entries **2526 - 2550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	Atp6v1a	11964	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	Atp6v0a1 Atp6v0a2 Atp6v1b2 Ctsb Rhag Rhbg Rhcg Rhd Slc4a1 Slc4a4	11966 11975 13030 19743 19746 20533 21871 54403 56315 58176	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080720	autosomal dominant congenital deafness with onychodystrophy	Atp6v1b2	11966	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	Atp6v0a1 Atp6v0a2	11975 21871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	11975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	Atp7a Dpp6 Hexb Kif5b	11977 13483 15212 16573	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	Atp7a Lox	11977 16948	Mus musculus (house mouse)	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	11977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:896	metal metabolism disorder Aliases: inborn metal metabolism disorder	Atp7a	11977	Mus musculus (house mouse)	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	11977	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	Slc7a2 Slc7a3	11988 11989	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Psapl1 Slc7a3 Srebf1 Srebf2	11989 19156 20787 20788 76943	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	Cdh23 Pcdh15	11994 22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110481	autosomal recessive nonsyndromic deafness 23 Aliases: DFNB23 autosomal recessive deafness 23	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110832	Usher syndrome type 1F Aliases: USH1F Usher syndrome type IF	Pcdh15	11994	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	Avp	11998	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13141	uveitis	ACE ANXA1 AOC3 AQP1 AQP4 ASS1 CCL2 CCL5 CCR5 CD163 CX3CL1 GC HLA-A HLA-B HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DQB2 HLA-DRB1 HSPA1L ICAM1 ICOS IFNG IFNGR1 IL10 IL13 IL17A IL1A IL23R IL2 IL6 IL6R LCN2 NR3C1 RELA SERPINA3 SERPINF1 SNCB TGFB1 TJP1 TLR4 TNF TNFRSF1A	12 1234 149233 1636 2638 2908 29851 301 3105 3106 3117 3118 3119 3120 3123 3305 3383 3458 3459 3552 3558 3569 3570 358 3586 3596 3605 361 3934 445 5176 5970 6347 6352 6376 6620 7040 7082 7099 7124 7132 8639 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	GALC HLA-DQB1 MAPT NEFH NEFL PRNP PTGS1 PTGS2 SERPINA3 SNCA STX1A YWHAG	12 2581 3119 4137 4744 4747 5621 5742 5743 6622 6804 7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST IL10 MPO NOS3 SERPINA3	12 3586 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	Atp6v1c1 Azgp1 Bcor Erbb2 Erbb3 Erbb4 Fgfr2 Kras Mdc1 Mmp1a Mmp2 Mmp9 Mutyh Rnf43 Slc3a2 Sparc Spint1 Tnfaip3	12007 13866 13867 13869 14183 16653 17254 17390 17395 20692 20732 207742 21929 240087 66335 70603 71458 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	Arl6 Bbs9 Cep131 Tmem67	12009 319845 329795 56297	Mus musculus (house mouse)	Alliance of Genome Resources

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