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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 **11851 - 11875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060276	pontocerebellar hypoplasia type 7	TOE1	114034	Homo sapiens (human)	Alliance of Genome Resources
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	TONSL	4796	Homo sapiens (human)	Alliance of Genome Resources
DOID:2115	B cell deficiency Aliases: B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion	TOP2A TOP2B	7153 7155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Aliases: PEOB5 autosomal recessive progressive external ophthalmoplegia 5	TOP3A	7156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	TOR1AIP1	26092	Homo sapiens (human)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	TP53BP2	7159	Homo sapiens (human)	Alliance of Genome Resources
DOID:10930	borderline personality disorder	TPH1	7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:9282	ocular hypertension	TPI1	851620	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	851620	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112186	thyroid dyshormonogenesis 2A Aliases: TDH2A genetic defect in thyroid hormonogenesis 2A iodide peroxidase deficiency thyroid peroxidase deficiency	TPO	7173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080059	autosomal recessive spinocerebellar ataxia 7 Aliases: SCAR7	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	TPRN	286262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources

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