GlyCosmos Portal

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

Displaying entries **2826 - 2850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	Bdnf	24225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	Bgn	25181	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	25181	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	Bicra	243842	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	Bltp1	229227	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	Bmp1 Col1a1 Col1a2 Phldb1 Smad4	102693 12153 12842 12843 17128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	Bmp1	12153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	Bmp10 Bves Cfc1 Dnah5 Fgf8 Gata4 Gja1 Jag1 Mthfd1 Nrp1 Ntf3 Phc1 Ptpn11 Tbx20	108156 110082 12154 12627 13619 14179 14463 14609 16449 18186 18205 19247 23828 57246	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	Bmp10 Bves Jag1 Nrp1 Ntf3	246331 29146 365603 500245 81737	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080494	ovarian dysgenesis 2	Bmp15	12155	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12185	otosclerosis	Bmp2 Bmp4 Col1a1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 12156 12159 12842 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	Bmp2 Bmp4 Eda Grem2 Lrp6 Tspear Wnt10a Wnt10b	12156 12159 13607 16974 22409 22410 23893 252974	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	Bmp2 Gdf5	12156 14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	Bmp2 Hfe	12156 15216	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	Bmp2 Hfe	29199 29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	Bmp2	29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	Bmp2	29373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Bmp4 Cdh1 Fgfr1 Gdf6 Mthfd1 Nectin1 Nog Pomt1 Sdc2	108156 12159 12550 14182 15529 18121 242316 58235 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	Bmp4 Creld1 Dnah11 Gata4 Glyr1	12159 13411 14463 171508 74022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	Bmp4 Ctnnb1 Erbb2 Gpx1 Sparc Spp1	12159 12387 13866 14775 20692 20750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	Bmp4 Ctnnb1 Gnas Sparc Spp1	12159 12387 14683 20692 20750	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	Bmp4 Egfr F11r Il13 Il5 Tjp1 Tnf	12159 13649 16163 16191 16456 21872 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	Bmp4 Eif4ebp1 Mmp9 Tsc1	12159 13685 17395 64930	Mus musculus (house mouse)	Alliance of Genome Resources

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