GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5576 - 5600** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	BRCA1 CHRNA5 CLPTM1L CR2 CSF1R CYP2E1 GPX1 MAP2K4 MAPK14 MST1R TET2 TP53 XRCC1	1138 1380 1432 1436 1571 2876 4486 54790 6416 672 7157 7515 81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	SLC3A1	6519	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	20532	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GLDC	2731 275	Homo sapiens (human)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	Bcat2	12036	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB DBT DLD	1629 1738 593 594	Homo sapiens (human)	Alliance of Genome Resources
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Ass1	11898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	F10 F12 Gria1 Grin2a Grin2b	24409 24410 29243 306761 50592	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	CBS MTR	4548 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CPS1	1373	Homo sapiens (human)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	Cps1	227231	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	bli-3	171608	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9282	ocular hypertension	MMP1 MYOC	4312 4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:9286	priapism Aliases: Mentulagra	F13A1	2162	Homo sapiens (human)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	BMP4 CDH1 FGFR1 GDF6 MTHFD1 NECTIN1 NOG POMT1 SDC2 SLC19A1	10585 2260 392255 4522 5818 6383 652 6573 9241 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:93	language disorder	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	dome	32976	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	Cebpb	12608	Mus musculus (house mouse)	Alliance of Genome Resources

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