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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 **976 - 1000** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
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
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080006	bone development disease	CSF1R FLNB LRP4 NPR2 TNFRSF11A	1436 2317 4038 4882 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080010	bone structure disease	POSTN QRFPR	10631 84109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080015	physical disorder Aliases: congenital disorder	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080016	spina bifida	APEX1 GLI1 GLI2 MTHFD1 MTR PTCH1 RNF2 SUZ12	23512 2735 2736 328 4522 4548 5727 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080020	Jansen's metaphyseal chondrodysplasia Aliases: Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources

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