GlyCosmos Portal

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

Displaying entries **1901 - 1925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Abcc8 Gck Ins1 Ins2 Kcnj11	24385 24505 24506 25559 83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	EMI2 GLK1 HXK1 HXK2 YBT1	850317 850614 850678 852128 852639	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	Col7a1 Grip1	12836 74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	COL7A1 GRIP1	1294 23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Abcb4 Cftr Dnase1 Gnrhr Krt18 Tnf Vegfa	24255 24835 24891 25633 294853 81668 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Mdr49 Mdr65	36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	pgp-1 pgp-3	178215 181326	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	cftr vegfaa	30682 559080	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	ABCB4 CFTR DNASE1 GNRHR HLA-DQB1 KRT18 TNF VEGFA	1080 1773 2798 3119 3875 5244 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	NFT1 STE6	853671 853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	Abcb4 Cftr Dnase1 Gnrhr H2-Ab1 Krt18 Tnf Vegfa	12638 13419 14715 14961 16668 18670 21926 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome Aliases: Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome	GUP1	852796	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1r1 Il1rn	16177 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	Il1rn	60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	IL1R1 IL1RN LPIN2 PSTPIP2	3554 3557 9050 9663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ELK3 ITGA9	2004 3680	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	Itga9	104099	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ItgaPS4 ItgaPS5 scb	36692 36693 37732	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	Tsc1	64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	Slc4a11	269356	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	25550	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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