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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 **11301 - 11325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12801	mucopolysaccharidosis III Aliases: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency	GNS HGSNAT NAGLU SGSH	138050 2799 4669 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112334	pontocerebellar hypoplasia type 1C Aliases: PCH1C	EXOSC8	11340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080439	developmental and epileptic encephalopathy 14 Aliases: DEE14 early infantile epileptic encephalopathy 14	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080170	normophosphatemic familial tumoral calcinosis	SAMD9	54809	Homo sapiens (human)	Alliance of Genome Resources
DOID:3385	bacterial vaginosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	JUP KRT10 KRT1	3728 3848 3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	CASZ1 KCNAB2	54897 8514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070338	cerebellar hypoplasia	NAV1 NAV2 NAV3	89795 89796 89797	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111050	Quebec platelet disorder Aliases: BDPLT5 factor V Quebec platelet-type bleeding disorder 5	PLAU	5328	Homo sapiens (human)	Alliance of Genome Resources
DOID:2786	cerebellar disease	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050957	spinocerebellar ataxia type 4	ZFHX3	463	Homo sapiens (human)	Alliance of Genome Resources
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	BCAR1 BSG CD44 RICTOR SLCO1B3 TNFRSF10A XIAP	253260 28234 331 682 8797 9564 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080232	autosomal dominant intellectual developmental disorder 51 Aliases: autosomal dominant mental retardation 51	KMT5B	51111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:4492	avian influenza Aliases: avian flu bird flu	ACE2 PTGS2	5743 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome Aliases: FOXP1 Haploinsufficiency FOXP1 syndrome FOXP1-Related Neurodevelopmental Disorder Mental retardation with language impairment and with or without autistic features	FOXP1	27086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110713	Oguchi disease-2 Aliases: CSNBO2 congenital stationary night blindness Oguchi type 2	GRK1	6011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	CNTNAP2 TCF12 TCF3 TCF4	26047 6925 6929 6938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Aliases: PEOA2 autosomal dominant progressive external ophthalmoplegia 2	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	TNPO1	3842	Homo sapiens (human)	Alliance of Genome Resources

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