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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 **10526 - 10550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	ncr-1 ncr-2	176165 180719	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	unc-36	176155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	unc-36	176155	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	C14B9.8	176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111040	glycogen storage disease IXd Aliases: GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency	C14B9.8	176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	W01F3.2 acn-1 gly-3 zmp-4	176112 179991 180351 180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12306	vitiligo	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8465	retinoschisis	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	tyr-1	176105	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10123	pigmentation disease	W01F3.2 tyr-1 zmp-4	176105 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	W01F3.2 ddr-2 tyr-1 zmp-3 zmp-4	176105 178748 179991 180351 180622	Caenorhabditis elegans	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111726	geleophysic dysplasia 2 Aliases: GPHYSD2	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060218	CREST syndrome	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources

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