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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 **2376 - 2400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	Gpx4	625249	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12558	chronic progressive external ophthalmoplegia Aliases: progressive external ophthalmoplegia	RRM1	6240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111887	Diamond-blackfan anemia 3 Aliases: DBA3 RPS24-related Diamond-Blackfan anemia	RPS24	6229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070415	brachycephaly, trichomegaly, and developmental delay Aliases: BTDD MCINS Macinnes syndrome	RPS23	6228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	RPS14	6208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112019	non-syndromic X-linked intellectual disability 19 Aliases: MRX19 X-linked mental retardation 19	RPS6KA3	6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	RPS6KA1 RPS6KA3	6195 6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111883	Diamond-Blackfan anemia 5 Aliases: DBA5 RPL35A-related Diamond-Blackfan anemia	RPL35A	6165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	RPL26	6154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	Slc6a17	613226	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	RP1	6101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111310	familial febrile seizures 2 Aliases: FEB2 familial febrile convulsions 2	HCN2	610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	FKBP10	60681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111220	centronuclear myopathy 2 Aliases: CNM2	Amph	60668	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111566	familial isolated trichomegaly Aliases: TCMGLY long eyelashes	Fgf5	60662	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	Ackr3 Cxcr4	60628 84348	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2596	larynx cancer	Cxcr4 Vegfa	60628 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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