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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 **9226 - 9250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	dbl-1 sma-6	174044 179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	bmp2.L	397873	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	GDF5 IHH	3549 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	Gdf5 Ihh	14563 16147	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	grd-2	180349	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	gba-3 gba-4	177314 178535	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	gba-3 gba-4	177314 178535	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	Ednrb	50672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	Ednrb	13618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	Mitf	17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	Tnfrsf11a	21934	Mus musculus (house mouse)	Alliance of Genome Resources

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