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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **8601 - 8625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	Abcc1 Ace Adam33 Adam9 Adipoq Adrb1 Adrb2 Ager Bambi Bdkrb2 Bnip3 C3 C5ar1 Ccl11 Ccl1 Ccl2 Ccl7 Ccr5 Cd28 Cd40 Cd80 Cd86 Cftr Chi3l1 Chrm3 Chrna3 Chrna5 Chrna7 Clca1 Cma1 Col1a1 Crhr1 Csf2 Ctla4 Cxcl9 Cxcr2 Cxcr3 Cyp1a1 Cyp1a2 Egfr Egr1 Ephx1 Erbb3 F2 F2rl1 Faim2 Fas Fasl Flt1 Gc Grik5 Grin2b Gzma Gzmb Gzmd Gzme Gzmf Gzmg Hc Hhip Hp Htr2a Htr4 Icam1 Il12b Il13 Il13ra1 Il16 Il17a Il18bp Il1rl1 Il1rn Il27 Il5 Il5ra Il9 Kdr Lep Lepr Lrp1b Map2k4 Mbl2 Mcam Mmp1a Mmp9 Mpo Muc1 Muc5ac Muc5b Nfe2l2 Nr3c1 Ntf3 Ntrk1 Plaur Pon1 Ppargc1a Ptgs2 Selp Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Sftpb Sftpd Slc6a4 Smad4 Sod3 Tgfb1 Timp1 Tlr4 Tnf Tnfrsf1a Tnfrsf1b Vegfa	110751 110834 110835 11421 11441 11450 11502 11554 11555 11596 12062 12176 12266 12273 12477 12487 12519 12524 12638 12654 12671 12765 12766 12774 12842 12921 12981 13076 13077 13649 13653 13849 13867 14061 14063 14102 14103 14254 14473 14809 14812 14815 14938 14939 14941 14942 14943 14944 15139 15245 15439 15558 15562 15567 15894 16068 16160 16163 16164 16170 16171 16181 16191 16192 16198 16542 16625 16846 16847 17082 17128 17195 17228 17250 17329 17395 17523 17829 17833 18024 18205 18211 18793 18979 19017 19225 20290 20292 20296 20306 20344 20388 20390 20657 20700 20701 20702 20703 20704 20714 20716 20717 21803 21857 21898 21926 21937 21938 21939 22339 238393 238395 23844 246779 26398 271047 68010 72393 74069 74180 83995 84004 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Arid1a Calr Cd163 Chrna5 Clptm1l Csf1r Cxcr4 Dab2ip Ddr2 Efnb2 Erbb3 Ezh2 Fgfr4 Flt1 Fosl2 Gpx1 Grin2a Kdm3a Kdr Map2k4 Mapk14 Mst1r Muc5b Ppia Spen Src Stat3 Tet2 Tnfaip3 Trp53 Vegfa	104263 110835 12317 12767 12978 13642 13867 14056 14186 14254 14284 14775 14811 16542 18214 19882 20779 20848 214133 218335 21929 22059 22339 26398 26416 268373 56381 69601 74180 93671 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	Idua	15932	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3659	sialuria	Gne Slc17a5	235504 50798	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081290	Antley-Bixler syndrome without disordered steroidogenesis	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110977	brachydactyly type A1C Aliases: BDA1C	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	Ago2 Arc Bdnf Comt Drd1 Gad1 Gria1 Grin2a Grin2b Gucy1a1 Htr1a Htr2a Htr2c Kcnma1 Ngf Oprd1 Oprk1 Oprm1 Slc6a1 Th	11838 12064 12846 13488 14415 14799 14811 14812 15550 15558 15560 16531 18049 18386 18387 18390 21823 232333 239528 60596	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	Akt1 H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 Mmp13 Nos3	110557 11651 14961 14964 14969 14972 15006 15007 15013 15015 15018 17386 18127	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	Akap12 Arhgap26 Cbl Csf2 Flt3 Kras Nf1 Ptpn11 Ptpn6	12402 12981 14255 15170 16653 18015 19247 71302 83397	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080840	optic atrophy 12	Afg3l2	69597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	Fkbp14	231997	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110108	atrial heart septal defect 3 Aliases: ASD3 atrial septal defect 3	Myh6	17888	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	Nos3 Vegfa	18127 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	Ppib	19035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060295	complement component 2 deficiency	C2	12263	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	Alpl	11647	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060668	anencephaly	Efna5	13640	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060249	scoliosis	Adamts20 Elp1 Fbn1 Fbn2 Mmp1a Ptk7	14118 14119 223838 230233 71461 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9620	vesicoureteral reflux Aliases: vesico-ureteral reflux	Agtr1a Agtr1b Agtr2 Csf1 Havcr1 Ifng Igf1r Robo2 Timd2 Tnxb Upk3a	11607 11608 11609 12977 15978 16001 171283 171284 22270 268902 81877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	Sgcg	24053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	Tgfb3	21809	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	Mesd	67943	Mus musculus (house mouse)	Alliance of Genome Resources

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