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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 **351 - 375** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	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:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060180	colitis	ADIPOQ ADRB3 ANXA1 APOA4 ARRB1 BMP6 CAT CCKBR CCL2 CCR1 CD40 CHUK CRHR2 CXCR2 HAVCR1 HLA-B HP HPR ICAM1 ICOS IKBKB IL10 IL17A KDR LCT MIF MSH2 MUC2 NOD2 NOS2 NOS3 NTRK1 NTRK2 PPARGC1A PTGS2 RELA SELL SELP SI TACR1 TACR2 TFF1 TLR3 TLR4 VCAM1	10891 1147 1230 1395 155 26762 29851 301 3106 3240 3250 337 3383 3551 3579 3586 3605 3791 3938 408 4282 4436 4583 4843 4846 4914 4915 5743 5970 6347 6402 6403 64127 6476 654 6865 6869 7031 7098 7099 7412 847 887 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	SERPINE1 VEGFA	5054 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	IL17A SERPINA1 TLR2 TLR4	3605 5265 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	DCTN1 NEFH PRPH SNCG SOD1 SOD2 VEGFA	1639 4744 5630 6623 6647 6648 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060201	amyotrophic lateral sclerosis type 10 Aliases: ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia	TARDBP	23435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
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: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

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