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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 **5376 - 5400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111586	Martsolf syndrome Aliases: cataract-intellectual disability-hypogonadism syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060237	Warburg micro syndrome Aliases: WARBM Warburg-Sjo-Fledelius syndrome micro syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	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:0080991	congenital myopathy 1B Aliases: multiminicore disease	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	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:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080239	autosomal recessive intellectual developmental disorder 61 Aliases: Alwadei syndrome autosomal recessive intellectual developmental disorder-61 autosomal recessive mental retardation 61	RUSC2	9853	Homo sapiens (human)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	RUNX1	861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	RTN1 RTN2 RTN3 RTN4	10313 57142 6252 6253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081231	autosomal recessive intellectual developmental disorder 70	RSRC1	51319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	RSPO4	343637	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	RSPO2	340419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	RSP5	856862	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	RSP5	856862	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12558	chronic progressive external ophthalmoplegia Aliases: progressive external ophthalmoplegia	RRM1	6240	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: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

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