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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 **12676 - 12700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	MYO15A	51168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070011	Seckel syndrome 7 Aliases: SCKL7	NIN	51199	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	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
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	GP6	51206	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: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:0112341	hereditary spastic paraplegia 80 Aliases: SPG80 spastic paraplegia 80 autosomal dominant	UBAP1	51271	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: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: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:0050675	Birk-Barel syndrome Aliases: Birk-Barel mental retardation dysmorphism syndrome	KCNK9	51305	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: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:0050887	Townes-Brocks syndrome	DACT1 SALL1	51339 6299	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: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: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: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: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

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