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 **6701 - 6725** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Parg	31329	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070331	mitochondrial DNA depletion syndrome 8b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related	TYMP	1890	Homo sapiens (human)	DisGeNET
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	ACO2 CD44 CS DGKB DGKE PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC25A10 SUCLA2 SUCLG1	142 1431 1468 1607 50 5290 5291 5293 5294 8526 8802 8803 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070328	adult hepatocellular carcinoma Aliases: adult hepatoma adult primary hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 HPSE LDHA OGG1 PIK3CA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	10855 126 1555 23213 2539 2719 28 353 38 3939 4968 5168 5290 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)	DisGeNET
DOID:0070324	systemic Epstein-Barr virus positive T-cell lymphoma of childhood Aliases: EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)	DisGeNET
DOID:0070323	childhood acute myeloid leukemia Aliases: childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia	CD33 CD38 CNTFR EBP HPGDS IDH1 IDH2 KLRK1 NCAM1 PAFAH1B1 PLCB4	10682 1271 22914 27306 3417 3418 4684 5048 5332 945 952	Homo sapiens (human)	DisGeNET
DOID:0070322	childhood hepatocellular carcinoma Aliases: pediatric hepatocellular carcinoma	ABO ACAT1 ADH1C APRT CYP2B6 ENPP2 G6PD GPC3 LDHA PNPLA3 PTGS2 ST6GAL1 SULF1 TNKS UGT1A7 UGT1A9 VCAM1	126 1555 23213 2539 2719 28 353 38 3939 5168 54577 54600 5743 6480 7412 80339 8658	Homo sapiens (human)	DisGeNET
DOID:0070318	dry beriberi	CHAT SLC35F3 TKT	1103 148641 7086	Homo sapiens (human)	DisGeNET
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	PIK3CA PIK3CB PIK3CD PIK3CG VNN1	5290 5291 5293 5294 8876	Homo sapiens (human)	DisGeNET
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	360604	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Spata20	217116	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	B0495.5	174243	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)	DisGeNET
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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