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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 **3251 - 3275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	TMEM138	51524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080717	infantile liver failure syndrome 1	LARS1	51520	Homo sapiens (human)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	HSD17B7	51478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SUCO	51430	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	BMPR1A MAP3K7 PRKAG2 PRKAG3	51422 53632 657 6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACKR3 CXCR4 KMT2C UBR5 XRCC1	51366 57007 58508 7515 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111847	osteogenesis imperfecta type 19 Aliases: OI19 osteogenesis imperfecta type XIX	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1 Aliases: IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080754	X-linked keratosis follicularis spinulosa decalvans	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070378	developmental and epileptic encephalopathy 109 Aliases: DEE109	FZR1	51343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050887	Townes-Brocks syndrome	DACT1 SALL1	51339 6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081126	DeSanto-Shinawi syndrome Aliases: Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	WAC	51322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081231	autosomal recessive intellectual developmental disorder 70	RSRC1	51319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	TLR7	51284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112341	hereditary spastic paraplegia 80 Aliases: SPG80 spastic paraplegia 80 autosomal dominant	UBAP1	51271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	PCSK1	5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources

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