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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 **7276 - 7300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080746	Sweet syndrome Aliases: Acute Febrile Neutrophilic Dermatosis Sweet's syndrome	MEFV MMP2 MMP9	4210 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081190	autosomal recessive intellectual developmental disorder 18	MED23	9439	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060799	syndromic X-linked intellectual disability Lubs type Aliases: Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	MDM1	854867	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH2	4191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	MDH1 MDH2	853777 853994	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080490	mucolipidosis type IV	MCOLN1 MCOLN3	55283 57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	856130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	MCM2	4171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050631	Allan-Herndon-Dudley syndrome Aliases: AHDS ALLAN-HERNDON SYNDROME	MCH4 MCH5	854030 854483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1059	intellectual disability	MCH4 MCH5 PGI1 SEC12 SMC3 TRS120	852016 852495 853371 854030 854483 855760	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	MCD4	853690	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	56922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080621	glucocorticoid deficiency 1	MC2R	4158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	MC1R OCA2	4157 4948	Homo sapiens (human)	Alliance of Genome Resources

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