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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 **1676 - 1700** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081369	Paget's disease of bone 6 Aliases: Paget disease of bone-6	ZNF687	57592	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:0081372	lacrimoauriculodentodigital syndrome 3 Aliases: Lacrimo-auriculo-dento-digital syndrome 3	FGF10	2255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081373	disabling pansclerotic morphea Aliases: disabling pansclerotic morphea of childhood	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081378	amyotrophic lateral sclerosis type 24	NEK1 NEK9	4750 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081382	amyotrophic lateral sclerosis type 28	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081384	ataxia-telangiectasia-like disorder-1	MRE11	4361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias Aliases: TANGO2 deficiency metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	TANGO2	128989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081394	Caroli syndrome	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome Aliases: PHRINL syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081397	Vissers-Bodmer syndrome	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081398	holoprosencephaly 12 Aliases: holoprosencephaly-12 with or without pancreatic agenesis	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10	EMILIN1	11117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081400	autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1	6709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	BSCL2	26580	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:0081421	familial focal epilepsy with variable foci 1	DEPDC5	9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	DEPDC5 NPRL3	8131 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	VWA1	64856	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	TANC1 TANC2	26115 85461	Homo sapiens (human)	Alliance of Genome Resources

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