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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 **13576 - 13600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3783	Coffin-Lowry syndrome	RPS6KA1 RPS6KA3	6195 6197	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: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:0070415	brachycephaly, trichomegaly, and developmental delay Aliases: BTDD MCINS Macinnes syndrome	RPS23	6228	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:12558	chronic progressive external ophthalmoplegia Aliases: progressive external ophthalmoplegia	RRM1	6240	Homo sapiens (human)	Alliance of Genome Resources
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:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA1S CACNG1 RYR1 RYR2 RYR3	6261 6262 6263 779 786	Homo sapiens (human)	Alliance of Genome Resources
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	RYR1 RYR2 RYR3	6261 6262 6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080991	congenital myopathy 1B Aliases: multiminicore disease	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	RYR2	6262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	BDNF	627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110026	age related macular degeneration 14 Aliases: ARMD14	C2 CFB	629 717	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:14095	boutonneuse fever Aliases: African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:2810	middle lobe syndrome	SALL1	6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110264	cataract 33 Aliases: CTRCT33	BFSP1	631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050954	spinocerebellar ataxia type 1	ATXN1	6310	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources

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