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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 **10901 - 10925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	SLC12A5	57468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1 PGM5	5236 5239	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110490	autosomal recessive nonsyndromic deafness 31 Aliases: DFNB31 autosomal recessive deafness 31	WHRN	25861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1 Aliases: ARCS1	VPS33B	26276	Homo sapiens (human)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060648	anterior segment dysgenesis Aliases: anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080581	hyperekplexia 4	ATAD1	84896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	HNRNPH2	3188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Aliases: IMD73A neutrophil immunodeficiency syndrome	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	Homo sapiens (human)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABCB1 ABCC2 ABCC8 ADAMTS1 APEX1 APP ASPM BAD BAG3 BRD1 C7 CDKL5 CHRNA3 CIT CNTNAP2 CSTB DKK1 DRD3 EGR1 ENO2 EPO ERBB4 FAS FCGR2A FCGR3A FGFR1 GABBR1 GAP43 GLUD1 GLUD2 GLUL GRIA1 GRIK5 GRM8 HCN1 HCN2 HDAC2 HRH3 HSPA1A HSPA5 IFNG IL6R IL6ST KCNA1 KCNJ11 KDM3B L2HGDH MAP1B MARCKS MBD3 MECP2 MSH2 NFE2L2 NGFR NPY1R NPY5R NR3C1 NRG1 PAFAH1B1 PAWR PCSK1 PDGFB PLD1 PLD2 PLP1 PRICKLE1 PTGS2 PTPRZ1 REG3G RRM1 RTN4 SCN2B SLC12A2 SLC38A1 SLC38A2 SLC38A3 SLC6A11 SMO SPP1 SREBF2 SYT1 SYT4 TACR3 TNF TNFRSF1A TNFRSF1B TUBA1A VDAC1 VDAC2 VTN WFS1 WNT2 XRCC1 YWHAZ	10991 11113 11255 1136 1244 130120 144165 1476 18 1814 1958 2026 2056 2066 2212 2214 2260 22943 23774 2550 259266 2596 26047 2746 2747 2752 2890 2901 2908 2918 3066 3084 328 3303 3309 3458 348980 351 355 3570 3572 3736 3767 4082 4131 4204 4436 4780 4804 4886 4889 5048 5074 5122 5155 51780 5243 5337 5338 5354 53615 54407 57142 572 5743 5803 610 6240 6327 6538 6558 6608 6696 6721 6792 6833 6857 6860 6870 7124 7132 7133 730 7416 7417 7448 7466 7472 7515 7534 7846 79944 81539 9510 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	BBS9	27241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	KCNC2	3747	Homo sapiens (human)	Alliance of Genome Resources
DOID:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	PANK2 PANK3 SNCA SNCB SNCG	6620 6622 6623 79646 80025	Homo sapiens (human)	Alliance of Genome Resources
DOID:614	lymphopenia Aliases: Lymphocytopenia	CCL28 CD28 CSF1R EDNRB FCGR2A FCGR3A IL2RA TNF VAV1	1436 1910 2212 2214 3559 56477 7124 7409 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:26	pancreas disease	MSLN	10232	Homo sapiens (human)	Alliance of Genome Resources
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	GABRD IL10 TPH1	2563 3586 7166	Homo sapiens (human)	Alliance of Genome Resources

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