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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 **51 - 75** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	prtfdc1	100124954	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050869	villous adenoma	rnf43	100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	fut1 fut2 pon2	100493351 447958 448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	100145309	Xenopus tropicalis (tropical clawed frog)	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:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	adamts5 col2a1	100488158 394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	galnt2	100488284	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	abo.2 abo.3 abo.4 abo	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	gpr161	100170613	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.2 abo.3 abo.4 abo	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	nog	493191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	fgfr1	548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	adamts5	100488158	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	pomt2	100490100	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst4 chst6	100495636 100496630	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14227	azoospermia	ndst1 ndst2 ndst3 ndst4	100145653 100217321 100380006 496577	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0081317	multiple synostoses syndrome 1	nog	493191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	b4gat1 fkrp fktn large1 pomgnt1 pomt1	100124956 100145309 100158594 100170600 100498555 448433	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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