GlyCosmos Portal

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

Displaying entries **351 - 375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	MEST	4232	Homo sapiens (human)	Alliance of Genome Resources
DOID:1556	arthus reaction Aliases: Arthus phenomenon Arthus type urticaria	Cfd Fcgr2a Fcgr2al1 Fcgr2b	116591 289211 498276 54249	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	sph-1	177608	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4371	Schnitzler syndrome	Il1a Il1rn	16175 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Abhd12	499913	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Ace Acvr2b Add1 Agt C3 Ccn3 Cd40lg Cd46 Chi3l1 Clu Comt Corin Cst3 Cubn Esr2 Fas Faslg Hp Hsd11b1 Icam1 Il1rn Itpr1 Lcn2 Lep Lepr Mmp2 Mmp9 Nos3 Ogg1 Pgf Plaur Pparg Proc Rbp4 Robo1 Ryr2 Serpina1 Serpine1 Slc2a1 Tfpi Timp1 Tlr4 Tnf Tnfrsf1b Trpv5 Trpv6 Vegfa	114246 116469 116510 156767 170496 24170 24179 24232 24267 24310 24464 24536 24600 246097 24617 24648 24778 24835 24854 25116 25149 25262 25268 25307 25366 25385 25464 25608 25664 25703 289596 29260 29333 29436 50692 58946 60582 689560 80848 81526 81528 81686 81687 83785 84349 89824 94203	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	Sall4	99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:2527	nephrosis	Ace Angpt1 Angpt2 Ccl1 Ccl7 Cd36 Cd59a Cd59b Cfh Cfhr4 F2 Gpx1 Havcr1 Lamb2 Lrp2 Pdpn Ptpru Srebf2 Vim	11421 11600 11601 12491 12509 12628 14061 14725 14726 14775 16779 171283 19273 20290 20306 20788 214403 22352 333883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	Ppia Ppial4d	100360977 25518	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	HBB NOS3 VEGFA	3043 4846 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	ninaE	42367	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:384	Wolff-Parkinson-White syndrome Aliases: Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation	BMPR1A MAP3K7 PRKAG2 PRKAG3	51422 53632 657 6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	Csf3	12985	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ACAN ADAM12 ADAMTS14 ADAMTS5 AGER ASPN ATP7A BAD BAG6 BAX BMP2 BMP7 BMPR1A CASP9 CCR4 CD36 CILP CLEC3B COL11A1 COL1A1 COL2A1 COL9A1 DDR2 EFEMP2 EGR1 ENPP1 EPAS1 ERRFI1 ESR1 FCGR2A FGFR1 FLT1 FN1 FRZB GDF5 GHR HBP1 HFE HIF1A IGF1R IGF2 IGFBP3 IHH IL1A IL4R IL5 INS JAG1 LEP MATN3 MMP13 MMP1 MMP2 MMP3 MMP8 MMP9 NCOR2 NFATC1 NGF PECAM1 POMC PTGS2 SERPINA1 TGFBR1 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D TNFRSF11B	11096 1233 1277 1280 1297 1301 140766 176 177 182 1958 2034 2099 2212 2260 2321 2335 2487 2690 26959 30008 3077 3091 3480 3481 3486 3549 3552 3566 3567 3630 3952 4148 4312 4313 4314 4317 4318 4322 4772 4803 4921 4982 5167 5175 5265 538 54206 5443 54829 572 5743 581 650 655 657 7046 7123 7917 8038 8200 842 8483 8793 8794 8795 8797 948 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	nep-11 nep-1	173685 174787	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	Ephb4	13846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A Aliases: USH2A Usher syndrome type IIA	PDZD7 USH2A	7399 79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st	42380	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	chst6.L chst6.S	108715440 444431	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	Chrnb1	24261	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum Aliases: PEBAT early-onset progressive encephalopathy with brain atrophy and thin corpus callosum	TBCD	6904	Homo sapiens (human)	Alliance of Genome Resources

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