GlyCosmos Portal

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

Displaying entries **1026 - 1050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1 RERE	1822 473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	ATP10B SEMA7A SLC51A VPS33B ZFYVE19	200931 23120 26276 8482 84936	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ATP13A2 ATP13A3 ATP13A5 CLN3 CTSD PPT1 PPT2 SOD2 SPNS1 SPNS2	1201 124976 1509 23400 344905 5538 6648 79572 83985 9374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	ATP1A1 ATP1A2 CACNA1A	476 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:863	nervous system disease	ATP1A1 ATP1A2 KIF1B KIF1C	10749 23095 476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111558	Charcot-Marie-Tooth disease type 2DD Aliases: ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD	ATP1A1 ATP1A2	476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	ATP1A2 CACNA1A DBH DRD2	1621 1813 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 KCNQ2 KCNQ3	3785 3786 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	Homo sapiens (human)	Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	ATP2B4 BCHE TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 493 590 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP2B4	493	Homo sapiens (human)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ATP4B HLA-DQB1 HLA-DRB1 PTPN11	3119 3123 496 5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	ATP4B	496	Homo sapiens (human)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	ATP5F1A AVP BDNF CDK5 CREB1 EIF4E EPO FGFR1 FLT1 GPX1 GRIN1 GRIN2A GRIN2B GSK3B HSPA1A IGF1R LPA MAPT MMP2 MTOR NEFL NOX1 PON2 RPGRIP1L RPS6 SNCA SNCG SREBF2 TNF TP53	1020 1385 1977 2056 2260 2321 23322 2475 27035 2876 2902 2903 2904 2932 3303 3480 4018 4137 4313 4747 498 5445 551 6194 627 6622 6623 6721 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources

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