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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 **651 - 675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2355	anemia Aliases: anaemia	HXK1 HXK2 SMF3 ZWF1	850614 850721 852639 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	dhrr-1	191374	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8541	Sezary's disease Aliases: Sezary disease Sezary syndrome	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	opn1lw1 opn1lw2	30413 436716	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	ver-1	175182	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1272	telangiectasis Aliases: telangiectasia	Nos3	24600	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	Cblif Ccl2 Ptgs2 Tnf	24770 24835 29319 29527	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	Dag1 Sgca	13138 20391	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11	78989	Homo sapiens (human)	Alliance of Genome Resources
DOID:106	pleural tuberculosis Aliases: Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis	ADA2 CCR2 CCR5 IL1RN MMP9 TLR4 TNC	1234 3371 3557 4318 51816 7099 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	Abca1 Hmgcr	11303 15357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	Egfr dpp	33432 37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	CD3D	915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk.L	496338	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:13141	uveitis	acn-1 srp-6 srp-7	179125 179195 180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTG1 NTG2	851218 854114	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CGA ESR1 FLT1 INHA LHCGR PDGFA PDGFB PDGFRA PDGFRB PRMT5	10419 1081 2099 2321 3623 3973 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	LMNA LMNB1 LMNB2 SIRT6 VCPIP1	4000 4001 51548 80124 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources

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