GlyCosmos Portal

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

Displaying entries **2101 - 2125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	W01F3.2 zmp-2 zmp-4	175383 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060296	congenital secretory chloride diarrhea 1 Aliases: congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1	Slc26a3	114629	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	Hexo1 Hexo2 fdl	250735 31808 38528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112204	developmental and epileptic encephalopathy 68 Aliases: DEE68 early infantile epileptic encephalopathy 68	TRAK1	22906	Homo sapiens (human)	Alliance of Genome Resources
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	NOS1	4842	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	R193.2 T07A5.1 T07D3.4 W02B3.4 lam-3	172952 173469 182256 188207 189104	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2222	factor X deficiency Aliases: disease, Stuart-Prower	F10	14058	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070398	hypomyelinating leukodystrophy 15 Aliases: HLD15	EPRS1	2058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Abcb11 Abcb4 Atp8b1 Slc22a1 Slc22a2	24891 24904 291555 29503 83569	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	Tyr	22173	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060643	primary sclerosing cholangitis	NFT1 STE6	853671 853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	5-HT1A 5-HT1B Akap200 Atpalpha Bap170 CtBP CtsL1 Dop1R1 Dop1R2 Dop2R Egfr Fas2 GluRIA Kdm4B Lcch3 N Nmdar1 Rab3-GEF RhoGAP18B SerT SiaT Sod3 Tbh amon homer nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2 rut sca spi tay vn	31293 31364 31718 318918 32406 32442 32547 32554 32898 33007 33944 34170 35253 35560 36232 36411 36546 37191 37196 37455 37895 37950 38545 38657 38742 40665 41602 41726 42918 42919 42920 43215 43484 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	dpf-1 hex-1	180042 180533	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070038	autosomal dominant intellectual developmental disorder 8 Aliases: MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8	Nmdar1	40665	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	Angpt2 Dll4 Epo Hgf Icam1 Igfbp3 Il10 Kdr Nos1 Nos3 Notch1 Serpine1 Vegfa	24335 24446 24484 24598 24600 24617 25325 25464 25496 25589 311332 83785 89805	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	CHAMP1	283489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	C3 Ccl2 Cd40lg Col1a1 Crp Egf Fcgr2a Fcgr2al1 Fcgr2b Ifng Il1rn Tnf Tnfrsf11b Tnfrsf1a Tnfrsf1b Vcam1	116591 156767 24232 24770 24835 25313 25341 25361 25419 25625 25712 289211 29393 498276 60582 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	folt-1 unc-52	175126 179544	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	Calr Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Nup214 Pgi enok htk htl if mys trx	31926 32661 32877 34978 34979 34981 35886 36868 37104 37859 41166 41737 42160 44885 46091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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