GlyCosmos Portal

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

Displaying entries **376 - 400** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060203	amyotrophic lateral sclerosis type 12 Aliases: ALS12 amyotrophic lateral sclerosis 12	OPTN	10133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Aliases: ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	UBQLN1 UBQLN2 UBQLN4	29978 29979 56893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060209	amyotrophic lateral sclerosis type 18 Aliases: ALS18 amyotrophic lateral sclerosis 18	PFN1	5216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060210	amyotrophic lateral sclerosis type 19 Aliases: ALS19 amyotrophic lateral sclerosis 19	ERBB4	2066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060211	amyotrophic lateral sclerosis type 20 Aliases: ALS20 amyotrophic lateral sclerosis 20	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060212	amyotrophic lateral sclerosis type 21 Aliases: ALS21	MATR3	9782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Aliases: ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease	C9orf72	203228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ACE AGER AGT AGTR1 ANK2 CAND2 CD36 CD40 EDN1 FLT1 GP6 HGF HIF1A IL2 ITGAM KCNE1 KCNE2 KCNJ5 KCNQ1 MMP1 MMP2 MMP3 MMP9 RBM20 REN ROBO1 SLC8A1 SLIT2 SOD1 TFPI TGFB1 TLR2 TNF TTN VEGFA VWF	1636 177 183 185 1906 23066 2321 282996 287 3082 3091 3558 3684 3753 3762 3784 4312 4313 4314 4318 51206 5972 6091 6546 6647 7035 7040 7097 7124 7273 7422 7450 9353 948 958 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ	285203 3516 4851 54567 57514 57572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	JAM2 MYORG PDGFB PDGFRB SLC20A2	5155 5159 57462 58494 6575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	PLOD2	5352	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	KRAS MAP2K1	3845 5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	MEGF8	1954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060240	UV-sensitive syndrome	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	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

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