GlyCosmos Portal

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

Displaying entries **751 - 775** of **15957** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	rhcg	445260	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	MEP2	855580	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab2 Rhcg Slc38a3 Slc4a1	24779 252919 293048 79128	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	abts-4	180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab	39866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	DAB2 EDN1 MYH9 RHCG SLC38A3 SLC4A1	10991 1601 1906 4627 51458 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab2 Myh9 Rhcg Slc38a3 Slc4a1	13132 17886 20533 56315 76257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050759	myotonic dystrophy type 2	MBNL1 MBNL2	10150 4154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	VIPAS39 VPS33B	26276 63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	Ucp2	54315	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB PKD1 PRKCSH SEC63 UCP2	11231 23193 5310 5589 7351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	Ganab Pkd1 Prkcsh Sec63 Ucp2	140740 14376 18763 19089 22228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	aagr-4	180400	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GTB1 ROT2	851807 852530	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	lad-2	177078	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	Cdkn1b Dmbt1 Hsd17b10 L1cam Ret Sdha Sdhb	157074 170568 24716 298596 50687 63864 83571	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	Nrg	31792	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	CDKN1B CHGA DMBT1 HSD17B10 L1CAM RET SDHA SDHB	1027 1113 1755 3028 3897 5979 6389 6390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	Chga Dmbt1 L1cam Max Ret	12652 12945 16728 17187 19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	ret.S	373625	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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