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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 **601 - 625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	W01F3.2 acn-1 adm-2 daf-2 daf-4 lad-2 zmp-4	175410 175781 177078 179991 180351 180780 181489	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts Aliases: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts	AQP4 GPRC5B HEPACAM	220296 361 51704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	ITGA2B ITGB3	3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	CNGA3	1261	Homo sapiens (human)	Alliance of Genome Resources
DOID:4371	Schnitzler syndrome	IL1A IL1RN	3552 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	APOE AQP4 ATP13A2 ATP13A3 ATP13A5 BPTF C3 C5AR1 C9orf72 CASP9 CCR2 CHMP2B DCTN1 DPP6 EIF2AK2 EPG5 EPO EWSR1 FUS GDNF GOT1 GRN GSK3A GSK3B HDAC4 HMGB1 IGF1R IGF2R ITIH4 ITPR2 KDR KEAP1 KIF1B LCN2 LRRK2 MAP4 MAPT MMP1 MMP2 MMP9 MSTN NEFH NEFL NEFM NFE2L2 NRG1 OPTN PGF PON2 PON3 PPARGC1A PSMC4 PSMC5 PTGS2 PTPRZ1 SARM1 SERPINF1 SLC11A2 SLC1A2 SOD1 SOD3 SQSTM1 TARDBP TFAM UBQLN1 UBQLN2 UBQLN3 UBQLN4 UNC13A VAPA VAPB VEGFA ZNF106	10133 10891 120892 1639 1804 203228 2056 2130 2186 23025 23095 23098 23400 23435 2521 25978 2660 2668 2805 2896 2931 2932 29978 29979 3084 3146 344905 348 3480 3482 361 3700 3709 3791 3934 4134 4137 4312 4313 4318 4741 4744 4747 4780 4891 50613 5176 5228 5445 5446 5610 56893 5704 5705 5743 57724 5803 64397 6506 6647 6649 7019 718 728 729230 7422 79572 842 8878 9217 9218 9759 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Cant1 Xylt1	246272 64133	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110972	brachydactyly type E1 Aliases: BDE1	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050083	Keshan disease	Cyp1a1	24296	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	Cx3cl1	89808	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	Hspd1	15510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:529	blepharospasm	DRD5	1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	W01F3.2 cpr-3 cpr-4 cpr-6 parg-1 parg-2 pcp-1 pdfr-1 twk-46 unc-36 zmp-3 zmp-4	175942 176086 176155 177683 178748 179053 179991 180033 180252 180351 180931 186765	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	gpx-3 gpx-5 pgp-1 pgp-3	178215 181178 181326 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110710	hypotrichosis 13 Aliases: Hypt13 hypotrichosis with woolly hair	KRT71	112802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	FST	10468	Homo sapiens (human)	Alliance of Genome Resources
DOID:14118	familial lipoprotein lipase deficiency Aliases: Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia	Lpl	24539	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	MPDU1	9526	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	Atg6 smo	33196 42850	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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