GlyCosmos Portal

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

Displaying entries **4351 - 4375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	Fbp1	14121	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	Tmem231 Tmem67 Txndc15	234740 329795 69672	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	adrb1.L ngf.S	108697308 108709389	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	alg8.S	431849	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	nlr-1	178167	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110806	hereditary spastic paraplegia 54 Aliases: SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54	Sec23ip	309010	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1748	conjunctival squamous cell carcinoma Aliases: Conjunctival Epidermoid carcinoma invasive squamous cell carcinoma of the conjunctiva ocular surface squamous neoplasia squamous cell carcinoma of conjunctiva	Adam3	11497	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	Cul3 Scnn1a Scnn1b Scnn1g Wnk1 Wnk2 Wnk3 Wnk4	20276 20277 20278 232341 26554 279561 69847 75607	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:28	endocrine system disease	B4GALT1 PCSK1	2683 5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	fktn.S	495324	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	DSG2	1829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Cdk5 Dync1h1 Nos1 Nos3 Pomgnt1 Pomt1 Pomt2	140908 24598 24600 29489 362567 688673 84430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5585	Ferguson-Smith tumor Aliases: Multiple self-healing epithelioma of Ferguson-Smith	TGFBR1	7046	Homo sapiens (human)	Alliance of Genome Resources
DOID:12574	posterior uveitis Aliases: Uveitis, posterior	Ccr5 Cfh Cfhr4	12628 12774 214403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	Abce1 Abcg2 Adam28 Cadm1 Car9 Cd46 Cd59a Cd59b Cd82 Cd9 Cdh13 Dcn Ddr1 Egfr Eno2 Ep300 Esr1 Fas Fzd1 Fzd2 H2-Eb1 Hdac1 Igf2r Kdm6b Kdr Mdc1 Msh6 Mtus1 Ncoa1 Pdgfra Pdgfrb Prss8 Smad2 Snw1 Tfrc Timp3 Vegfc Wnt2	102103 12305 12509 12521 12527 12554 13179 13522 13649 13807 13982 14102 14362 14969 16004 16542 17126 17221 17688 17977 18595 18596 216850 21859 22042 22341 22413 230099 240087 24015 26357 328572 333883 433759 54725 57265 66354 76560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060591	WHIM syndrome Aliases: WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome	Cxcr4	60628	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080551	Naxos disease	Jup	16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	pat-3 pgp-1 pgp-3 poml-1 poml-2	171999 175504 178215 181326 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1227	neutropenia	Ap3b1 C5ar1 Csf2 Csf3 Csf3r Fcgr2b Fcgr3 Hc Mki67 Ptafr Stat3 Tnf	11774 12273 12981 12985 12986 14130 14131 15139 17345 19204 20848 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	RBP3	5949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	171293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	Hgf Kdr Vegfa	15234 16542 22339	Mus musculus (house mouse)	Alliance of Genome Resources

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