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GlyCosmos Diseases

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

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

Displaying entries **15826 - 15850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	col2a1 cs pam plod3	100170159 394828 550067 734090	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	adprs	548938	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	xylt1	100145490	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ace b4galt1.2 b4galt1	100144634 100145518 549418	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	fzd7	549495	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	fktn	100124956	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	notch1 rnf43 ugt1a1	100037842 100489505 100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	dpagt1	100487779	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	tmem231	100145127	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1.2 b4galt1	100127746 100145518 549418 594994	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	pgap3	779696	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	fgfr1	548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	cacna1c	100488055	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	xylt1	100145490	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	rnf43	100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12986	leukostasis	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	mfsd2a	780091	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060071	pre-malignant neoplasm	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	fgfr1	548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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