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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 **8376 - 8400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081394	Caroli syndrome	Pkhd1	241035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	Tlr2	24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	Tlr2	24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8867	molluscum contagiosum	Tlr2	24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	Tlr2	24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	24070	Mus musculus (house mouse)	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 Sec31b	240667 69162	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	Nup35 Spry2	24064 69482	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081022	retinal cone dystrophy 3B Aliases: cone dystrophy with supernormal rod responses	Kcnv2	240595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	Slco2a1	24059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	Sgcg	24053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F Aliases: LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency	Sgcd	24052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	Sgcd Sgcg Sgcz	24052 24053 244431	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	Sgcb	24051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070149	hereditary sensory and autonomic neuropathy type 7 Aliases: HSAN7 hereditary sensory and autonomic neuropathy type VII	Scn11a	24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111731	familial episodic pain syndrome 3 Aliases: FEPS3	Scn11a	24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	Setbp1	240427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070059	autosomal dominant intellectual developmental disorder 29 Aliases: MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29	Setbp1	240427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110525	autosomal recessive nonsyndromic deafness 77 Aliases: DFNB77 autosomal recessive deafness 77	Loxhd1	240411	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112209	developmental and epileptic encephalopathy 73 Aliases: DEE73 early infantile epileptic encephalopathy 73	Rnf13	24017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070035	autosomal dominant intellectual developmental disorder 5 Aliases: MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5	Syngap1	240057	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8488	polyhydramnios	Lnpep	240028	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070354	cataract 48 Aliases: CTRCT48	Tiam2	24001	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070444	neurodevelopmental disorder with language delay and seizures	Tiam2	24001	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5 CCL5 TACR1	240 6352 6869	Homo sapiens (human)	Alliance of Genome Resources

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