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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 **5726 - 5750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 ADGRV1 AIFM1 BCAN CA4 CAT CC2D2A CLRN1 CNGA1 CNGB1 CRB1 CRB2 CWC27 EDN1 EPG5 EYS FDXR FGFR2 GRIN2B GUCY2D HGF HK1 HKDC1 IMPG1 KL MFRP MT1E MT1H MT2A NGF PDE6B POC5 POMGNT1 PRPF3 PRPF4 PRPF8 PRPH2 PRPS1 PTEN RGR RHO RLBP1 SERPINF1 SLC6A6 SNRNP200 SOD1 USH2A VEGFA	10283 10594 1258 1259 134359 1906 2232 2263 23020 23418 24 286204 2904 3000 3082 3098 346007 3617 4493 4496 4502 4803 5158 5176 55624 5631 5728 57545 57724 5961 5995 6010 6017 63827 6533 6647 7399 7401 7422 762 80201 83552 84059 847 9128 9129 9131 9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060372	Parkinson's disease 15 Aliases: Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome	FBXO7	25793	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:4990	essential tremor Aliases: benign essential tremor essential hereditary tremor shaky hand syndrome	DRD3 MAPT	1814 4137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050654	Baller-Gerold syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:9065	leishmaniasis	CCR5 IFNG IL4 SLC6A4	1234 3458 3565 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:93	language disorder	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:2527	nephrosis	ACE ANGPT1 ANGPT2 CAT CCL1 CCL7 CD36 CD59 CFH CX3CL1 CYP11A1 CYP27B1 EDN1 F2 GATA3 GPX1 HAVCR1 LAMB2 LRP2 NES NPPA NPPB PDPN PTPRU SREBF2 VIM	10076 10630 10763 1583 1594 1636 1906 2147 2625 26762 284 285 2876 3075 3913 4036 4878 4879 6346 6354 6376 6721 7431 847 948 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050656	pseudo-TORCH syndrome 1 Aliases: BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	100506658	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:0080527	bronchiectasis 2	SCNN1A	6337	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070038	autosomal dominant intellectual developmental disorder 8 Aliases: MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8	GRIN1	2902	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080828	VEXAS syndrome Aliases: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110327	hypertrophic cardiomyopathy 26 Aliases: CMH26 cardiomyopathy familial hypertrophic 26	FLNC	2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	ADM ALB CCL2 CD14 CFH HMGB1 IRF5 LBP PCNA UCP2	133 213 3075 3146 3663 3929 5111 6347 7351 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources

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