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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 **7826 - 7850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	Il10	25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080633	developmental cardiac valvular defect	Mthfd1	108156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	tmem231	393358	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	Acvr2b Cfc1 Zic3	11481 12627 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	Wnt10b	22410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	alg11	407614	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	MATN3	4148	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	ATP6V0A1 ATP6V0A2 ATP6V0A4 CTSB CYP11B1 SLC4A1 SLC4A4	1508 1584 23545 50617 535 6521 8671	Homo sapiens (human)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	CALR CRKL EFNB2 FLT3LG FOXA1 HLA-DQA1 IGF2R KMT2D PRF1 SLCO1B3 SRC TGFB1 TGFB2 TLR3 TNFRSF17 TNFRSF1A TNFRSF1B TYMS UBA52 VEGFA	1399 1948 2323 28234 3117 3169 3482 5551 608 6714 7040 7042 7098 7132 7133 7298 7311 7422 8085 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	gapdh.S	380259	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F2 F7	2147 2155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	Fgf10 Fgfr2	25022 25443	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	scn4aa scn4ab	564977 572442	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	dep-1 ver-1 ver-4	174437 175182 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110529	autosomal recessive nonsyndromic deafness 84A Aliases: DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction	Ptprq	360417	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	CACNB2	783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080446	developmental and epileptic encephalopathy 66 Aliases: DEE66 early infantile epileptic encephalopathy 66	Pacs2	217893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	Jup	81679	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Mcoln1 Mcoln3 Neu1	171166 18010 214505 94178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources

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