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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **4576 - 4600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110387	retinitis pigmentosa 9 Aliases: RP9	LPIN1	23175	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	ALG5 GANAB PKD1 PKD2 PLA2G4A PTGS1 PTGS2 XYLT2	23193 29880 5310 5311 5321 5742 5743 64132	Homo sapiens (human)
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	ALG8 ALG9 GANAB LRP5 PKD1 PKD2 PRKCSH UCP2	23193 4041 5310 5311 5589 7351 79053 79796	Homo sapiens (human)
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	GANAB PKD1 PKD2	23193 5310 5311	Homo sapiens (human)
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	ACSBG1 B3GAT1 FUT1 HADHA NAAA NCAM1 SMUG1	23205 23583 2523 27087 27163 3030 4684	Homo sapiens (human)
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)
DOID:0080468	developmental and epileptic encephalopathy 1 Aliases: DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1	CACNA2D2 PIGP PIGQ PLCB1 SMUG1 SYNJ1	23236 23583 51227 8867 9091 9254	Homo sapiens (human)
DOID:0060551	poikiloderma with neutropenia Aliases: poikiloderma with neutropenia, Clericuzio type	ENOSF1 GPX1 GPX3 MAG PLCB1	23236 2876 2878 4099 55556	Homo sapiens (human)
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)
DOID:8838	Hodgkin's lymphoma, nodular sclerosis Aliases: Classical Hodgkin lymphoma, nodular sclerosis	CLEC16A SDC1	23274 6382	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:863	nervous system disease	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	Atp1a2 Atp1a3	232975 98660	Mus musculus (house mouse)
DOID:0070385	developmental and epileptic encephalopathy 99 Aliases: DEE99 early infantile epileptic encephalopathy 99	Atp1a3	232975	Mus musculus (house mouse)
DOID:0090056	dystonia 12	Atp1a3	232975	Mus musculus (house mouse)
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Xylt1	233781	Mus musculus (house mouse)
DOID:0060653	lethal congenital contracture syndrome 3 Aliases: Israeli Bedouin type B multiple contracture syndrome	PIP5K1C	23396	Homo sapiens (human)
DOID:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:7365	Kimura disease Aliases: Kimura's disease	CD48 FUT4 LGALS9 MLYCD SMUG1	23417 23583 2526 3965 962	Homo sapiens (human)
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)
DOID:0060451	Meesmann corneal dystrophy Aliases: MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy	CAT MLYCD	23417 847	Homo sapiens (human)

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