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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 **9826 - 9850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	FOS PIK3CA PIK3CB	2353 5290 5291	Homo sapiens (human)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	FOS NOS2 PIGB	2353 4843 9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1	2348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:12897	submandibular gland disease	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111563	Sturge-Weber syndrome Aliases: SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis	FN1 MMP2 MMP9	2335 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080857	primary ovarian insufficiency 1 Aliases: FMR1-related primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency premature ovarian failure 1	FMR1	2332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	FMR1	2332	Homo sapiens (human)	Alliance of Genome Resources
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	FMR1 FXR1 FXR2 MMP9	2332 4318 8087 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	FMOD IL6 VEGFA	2331 3569 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	FLVCR1 HEATR3 RPL18 RPL35A RPL8	28982 55027 6132 6141 6165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	FLT4	2324	Homo sapiens (human)	Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	FLT4 KDR	2324 3791	Homo sapiens (human)	Alliance of Genome Resources
DOID:11382	corneal neovascularization	FLT1 IL1RN ITGAV MUC4 SERPINF1 TNFAIP6	2321 3557 3685 4585 5176 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110327	hypertrophic cardiomyopathy 26 Aliases: CMH26 cardiomyopathy familial hypertrophic 26	FLNC	2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050680	Boomerang dysplasia	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB TSC1	2317 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050648	atelosteogenesis	FLNB SLC26A2	1836 2317	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources

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