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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 **9876 - 9900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	855392	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	33658	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	33658	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	33658	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	33658	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	FIG4 Ser vn	33658 38657 43275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6 Aliases: EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080090	reducing body myopathy 1A	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080687	reducing body myopathy 1B	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060253	scapuloperoneal myopathy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112148	Uruguay faciocardiomusculoskeletal syndrome Aliases: FCMSU	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	FH	2271	Homo sapiens (human)	Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	FGR HCK SF3B2 SRC	10992 2268 3055 6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040094	autoimmune glomerulonephritis	FGL2	10875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050460	Wolf-Hirschhorn syndrome Aliases: 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome	FGFRL1 LETM2 NSD2	137994 53834 7468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060703	Muenke Syndrome Aliases: FGFR3-related craniosynostosis	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081371	lacrimoauriculodentodigital syndrome 2 Aliases: Lacrimo-auriculo-dento-digital syndrome 2	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080041	hypochondroplasia	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050736	autosomal dominant disease	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources

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