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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 **1001 - 1025** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	SPRED1	161742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23 Aliases: MC4DN23	COX11	1353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	PTPA	5524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	SLC6A2 SLC6A3	6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	SLC18A2	6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	ASPH ATXN2 ATXN2L CDIPT DOC2B KIF3C PAGR1 PPP4C TAOK1 TAOK2 TBX6	10423 11273 3797 444 5531 57551 6311 6911 79447 8447 9344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070520	peeling skin syndrome 1 Aliases: PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	CHD4	1108	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	SLC1A4	6509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	HNRNPH2	3188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31A	22872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080000	muscular disease	ACACA ACACB CLU CPT2 FASN HMGCR ITGA7 LPL	1191 1376 2194 31 3156 32 3679 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080001	bone disease	CCN2 FGFR1 FGFR2 FGFR3 FGFR4 NPR3 PON1	1490 2260 2261 2263 2264 4883 5444	Homo sapiens (human)	Alliance of Genome Resources

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