GlyCosmos Portal

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

Displaying entries **9876 - 9900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080633	developmental cardiac valvular defect	Mthfd1	108156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	Acvr2b Cfc1 Zic3	11481 12627 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	Wnt10b	22410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	Fkrp	243853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080446	developmental and epileptic encephalopathy 66 Aliases: DEE66 early infantile epileptic encephalopathy 66	Pacs2	217893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	Gnptg Mcoln1 Mcoln3 Neu1	171166 18010 214505 94178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	Cyp2c29	13095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	Tgfb2 Tgfbr1 Tgfbr2	21808 21812 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	Slc9a7	236727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	Kiss1r	114229	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	Proc Serpinf1	19123 20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	Acta1 Acta2 Actb Actbl2 Actc1 Actg1	11459 11461 11464 11465 11475 238880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081188	autosomal recessive intellectual developmental disorder 14	Tecr	106529	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	Myo9a	270163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	Supt16	114741	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081138	agammaglobulinemia 6	Cd79b	15985	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6196	reactive arthritis Aliases: Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy	Cyp1a1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Sod2	110557 13076 14964 14972 14990 15006 15007 15013 15015 15018 15043 20656	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	Lemd3	380664	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090055	dystonia 25	Gnal	14680	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9975	cocaine dependence	Ankk1 Bdnf Chrna3 Chrnb3 Comt Drd2 Egr1 Fos Gabbr1 Gria1 Htr2a Htr2c Htr3a Lrrc7 Manea Ngf Oprd1 Oprk1 Oprm1 Per2 Sirt2 Tenm3	108043 110834 12064 12846 13489 13653 14281 14799 15558 15560 15561 18049 18386 18387 18390 18627 23965 242274 242362 244859 54393 64383	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050419	complement factor I deficiency Aliases: C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY	Cfi	12630	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	Ctnna3	216033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:571	median neuropathy	Egfr Erbb2 Erbb3 Erbb4	13649 13866 13867 13869	Mus musculus (house mouse)	Alliance of Genome Resources

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