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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 **4626 - 4650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080244	Galloway-Mowat syndrome 2	LAGE3	8270	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14 Aliases: CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3	ALG2	85365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110615	primary ciliary dyskinesia 25 Aliases: CILD25 primary ciliary dyskinesia 25 with or without situs inversus	DNAAF4	161582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111274	CODAS syndrome Aliases: cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome	LONP1	9361	Homo sapiens (human)	Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	ADGRG6 DNAH10 KATNB1 MBTPS1 ODAD3 PRMT5 PTK7 PTPN11 RUNX3 SLC39A8 SLC6A9	10300 10419 115948 196385 57211 5754 5781 64116 6536 864 8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	CD163 IL3	3562 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ARSG ARSK GUSB HYAL1	153642 22901 2990 3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	ABCG2 ALAS1 CLPX UROS	10845 211 7390 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070286	primary autosomal recessive microcephaly 3 Aliases: MCPH3	CDK5RAP2	55755	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111563	Sturge-Weber syndrome Aliases: SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis	FN1 MMP2 MMP9	2335 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	COL1A1 COL1A2 SMPD3	1277 1278 55512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 ADAM10 ADAM17 COL1A1 COL6A3 CXCR3 FLNA LOX MFAP5 MMP12 MMP14 MMP1 MMP2 MMP8 MMP9 MYH11 MYLK PRKG1 SERPINE1 THSD4 TIMP1 TIMP3	102 1277 1293 2316 2833 345651 4015 4312 4313 4317 4318 4321 4323 4629 4638 5054 5592 58 59 60 6868 70 7076 7078 71 79875 8076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	EIF2B1 EIF2B4	1967 8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080044	hypochondrogenesis	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8	79053	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources

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