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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 **3001 - 3025** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0090031	D-bifunctional protein deficiency	HSD17B4	3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	WNT10B	7480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	ABCG5 ABCG8	64240 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090018	autosomal dominant familial periodic fever Aliases: FHF FPF TNF receptor associated periodic syndrome TRAPS familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome	TNFRSF1A	7132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	RPS14	6208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation Aliases: SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4 Aliases: ICF syndrome 4	HELLS	3070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	SLC12A6	9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090002	Tietz syndrome Aliases: Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081442	blepharophimosis-impaired intellectual development syndrome Aliases: SMARCA2-related blepharophimosis-intellectual disability syndrome	SMARCA2	6595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	SMARCA2 SMARCA4	6595 6597	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081440	Peroxisome biogenesis disorder 10B	PEX3	8504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	TANC1 TANC2	26115 85461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	VWA1	64856	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources

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