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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 **926 - 950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	CD14 CTLA4 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IFNG IL10 IL21 IL23R IL6 PON1 PON3	149233 1493 2147 29851 3117 3119 3123 3458 3569 3586 5444 5446 59067 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:6195	conjunctivitis	C3 CFB MMP2 PLG PTAFR	4313 5340 5724 629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	ATP1A1 ATP1A2 CACNA1A	476 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	Cdk13	69562	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	gpx-3 gpx-5 gspd-1 hse-5 lev-9	175562 178046 181178 182513 188252	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	Avp	24221	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	Ace Adipoq Ano6 Aspn Cyp1a1 Fcgr4 H2-Aa H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Igfbp3 Il17a Il23r Pgf Ptger4 Thbd Tlr4 Tlr5 Tnfrsf1b Vip	105722 110557 11421 11450 13076 14960 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 16009 16171 18654 19219 209590 21824 21898 21938 22353 246256 53791 66695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1934	dysostosis	efnb1.L	394292	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	pat-3	175504	Caenorhabditis elegans	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	Bdh1 Cs Igf1r Il10 Nr1d1 Pcsk1 Ppargc1a Serpine1 Slc34a1 Tshr Ugt1a1 Vim	117099 170587 24617 24861 25204 252917 25325 25360 25548 25718 81818 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	Snap25	20614	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112228	lissencephaly 9 with complex brainstem malformation Aliases: LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	MACF1	23499	Homo sapiens (human)	Alliance of Genome Resources
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	RYR1 RYR2 RYR3	6261 6262 6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Tubb3	22152	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	fz	45307	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	PMT2 PMT3 PMT6	851210 853113 854499	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ATF2 CREB1 FOS MAP2K6 MAPT SNCA SNCB TARDBP	1385 1386 23435 2353 4137 5608 6620 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	KAT6B	23522	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	CG7766	31839	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	TNFRSF11B	4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	Comp	12845	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	algn-1	175920	Caenorhabditis elegans	Alliance of Genome Resources

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