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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 **6426 - 6450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3	192334	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112268	nephrotic syndrome type 22 Aliases: NPHS22	Nos1ap	192363	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	Adgrg6 Mbtps1 Ptk7 Ptpn11 Slc39a8	19247 215798 56453 67547 71461	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111512	metachondromatosis Aliases: METCDS	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2602	chondroma Aliases: central Chondroma	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	Prokr2	192649	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	Ptpro	19277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	Cavin1	19285	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050153	pulmonary aspergilloma	Ptx3	19288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070061	autosomal dominant intellectual developmental disorder 31 Aliases: MRD31 autosomal dominant mental retardation 31 autosomal dominant non-syndromic intellectual disability 31	Pura	19290	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111066	congenital bile acid synthesis defect 5 Aliases: CBAS5	Abcd3	19299	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	Trpv1	193034	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	Pex5	19305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110854	rhizomelic chondrodysplasia punctata type 5 Aliases: Rcdp5	Pex5	19305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080477	peroxisome biogenesis disorder 2A Aliases: peroxisome biogenesis disorder 2A (Zellweger)	Pex5	19305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080622	peroxisome biogenesis disorder 2B	Pex5	19305	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	Pygm	19309	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	Megf8 Rab23	19335 269878	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9651	systolic heart failure	Hspa1a	193740	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	Mfap4 Rai1	19377 76293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	Rai1	19377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3073	brain glioblastoma multiforme Aliases: Glioblastoma multiforme of brain brain Glioblastoma	EEF2 NCAM1	1938 4684	Homo sapiens (human)	Alliance of Genome Resources

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