GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3026 - 3050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	Tubb3	22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	fgfr1.L fgfr1.S	397782 399444	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	Pth1r	56813	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	Park7 Synj2	20975 57320	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111740	X-linked deafness 6 Aliases: DFNX6	Col4a1	33727	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	Angpt2 Calcrl Celsr1 Flt4 Piezo1 Thsd1 Tie1 Vegfc	11601 12614 14257 21846 22341 234839 54598 56229	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	CHAT CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG MYO9A SYT1 SYT2	1103 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 127833 4649 6857 8973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	chrne.L	386670	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:437	myasthenia gravis	Ache Adrb2 Chrm1 Cxcr3 Esr2 Fas H2-Aa H2-Ab1 H2-Eb1 Il2rb Musk	11423 11555 12669 12766 13983 14102 14960 14961 14969 16185 18198	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110975	brachydactyly type B2 Aliases: BDB2	nog	493191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	Ance-3 vn	34808 38657	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	Tshb	25653	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	Il6st Pomc Pparg Prl3c1	16195 18976 19016 27372	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	Casr Flt1 Flt3 Flt4 Gsr Kdr Pdgfra Slc34a1 Slc9a1 Slc9a4 Tgfb1 Wwtr1 Yap1	110895 12374 14254 14255 14257 14782 16542 18595 20505 20544 21803 22601 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	Adgrg1	14766	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	W01F3.2 drag-1 glr-3 grd-2 pgp-1 pgp-3 snf-11 unc-47 wrt-6 zmp-4	172449 176431 178215 179991 180349 180351 180638 181326 190602 191770	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050864	non-arteritic anterior ischemic optic neuropathy Aliases: non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050775	schneckenbecken dysplasia	frc	39943	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	Ndufs1	227197	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:850	lung disease	ace	100144634	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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