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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 **10176 - 10200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	CACNB2	783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111923	spermatogenic failure 42 Aliases: SPGF42	TTC29	83894	Homo sapiens (human)	Alliance of Genome Resources
DOID:5419	schizophrenia Aliases: schizophrenia-1	ACE AGER AKT1 AKT3 ANK3 APOA4 ARPC1A ARPC1B ASH2L ASTN1 ATF2 ATN1 ATP5F1C AVPR1A B3GAT2 BACE1 BCHE BCL11A BRD1 CACNA1D CACNA1I CALY CHI3L1 CHL1 CHRFAM7A CHRM2 CHRNA7 CHST3 CNNM2 CNR1 CNTNAP2 COMT CREB1 CSMD1 CSMD3 CTNND2 CTSC CYFIP1 DNMT1 DRD2 DRD3 DRD4 DTNBP1 EGF EGFR ELFN1 ELK1 ERBB4 FOXP1 FOXP2 FZD3 GAD1 GAD2 GIGYF2 GLUL GNAS GRIA4 GRIK1 GRIN1 GRIN2A GRIN2B GRIN2D GRM2 GRM5 GRM8 GSK3B HIVEP2 HSPA1A HSPA1B HSPA1L HTR2A HTR2C IL10 IMPA2 ITGA8 KCNN3 KDM1A KMO L1CAM LRP8 LRRN3 LRRTM1 MAN2A2 MAP2 MAP6 MBNL1 MBP MDK MED15 MTOR NCAM1 NCSTN NGF NLGN2 NOS1 NOTCH4 NRG1 NRG3 NRXN1 NTRK1 NTRK2 NTSR1 OPA1 OPRM1 PAFAH1B1 PAK1 PDGFRB PIK3CD PLCB1 PPARA PPM1G PPP1R9B PPP3CA PTGS2 RELN RIMS1 RIMS2 RTN4R SBNO1 SETD1A SETDB1 SHMT2 SLC18A1 SLC6A1 SLC6A3 SNAP25 SNCA SP4 SRGAP3 SYN2 SYNGAP1 TAAR1 TAP1 TBP TCF4 TNF TNFRSF11B TPH1 UFD1 VWF YWHAZ ZNF521	10000 10095 10552 10718 1075 10752 1116 1129 1139 114788 1268 1312 134864 135152 1385 1386 1501 1636 177 1786 1813 1814 1815 1822 1950 1956 2002 2066 207 22999 23028 23191 23236 23385 23621 23774 2475 2571 2572 25925 26047 26058 27086 2752 2778 288 2893 2897 2902 2903 2904 2906 2912 2915 2918 2932 3084 3097 3303 3304 3305 3356 3358 337 347730 3586 3613 3782 3897 392617 4122 4133 4135 4154 4155 4192 460 4684 4803 4842 4855 4914 4915 4923 4976 4982 4988 5048 5058 50632 509 51586 5159 5293 53335 5465 54674 54805 5496 552 55206 5530 5649 5743 57555 590 64478 6472 65078 6529 6531 6570 6616 6622 6671 6854 6890 6908 6925 7124 7166 7353 7450 7534 776 7804 7976 84062 84687 8516 8564 8831 8911 89832 9070 9378 93986 9469 9699 9739 9869 9901	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	242	Homo sapiens (human)	Alliance of Genome Resources
DOID:3355	fibrosarcoma Aliases: Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm	CDC42 TNFRSF1A	7132 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111975	immunodeficiency 44 Aliases: IMD44	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	LMX1A	4009	Homo sapiens (human)	Alliance of Genome Resources
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110440	dilated cardiomyopathy 1J Aliases: CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060371	Parkinson's disease 8 Aliases: autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8	LRRK1 LRRK2	120892 79705	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:0080957	primary hypoalphalipoproteinemia 1 Aliases: familial HDL deficiency familial hypoalphalipoproteinemia	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	HMGCR JAG2 LAMA2 POGLUT1 POMT2 POPDC3	29954 3156 3714 3908 56983 64208	Homo sapiens (human)	Alliance of Genome Resources
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	GLI1 PTCH1 SHH SMO	2735 5727 6469 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:8455	pyridoxine deficiency anemia Aliases: vitamin B6 deficiency syndrome	AHCY	191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources

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