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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4851 - 4875** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CLEC7A CYP2C19	1557 64581	Homo sapiens (human)
DOID:0050328	congenital hypothyroidism	G6pd2 G6pdx Ppargc1a	14380 14381 19017	Mus musculus (house mouse)
DOID:0050328	congenital hypothyroidism	G6pd Ppargc1a	24377 83516	Rattus norvegicus (Norway rat)
DOID:0050328	congenital hypothyroidism	gspd-1	178046	Caenorhabditis elegans
DOID:0050328	congenital hypothyroidism	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:0050328	congenital hypothyroidism	Zw	32974	Drosophila melanogaster (fruit fly)
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:14177	congenital hypogammaglobulinemia Aliases: Congenital hypogammaglobulinaemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Pgi	35886	Drosophila melanogaster (fruit fly)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	PGI1	852495	Saccharomyces cerevisiae S288C
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi1	14751	Mus musculus (house mouse)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Gpi	292804	Rattus norvegicus (Norway rat)
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	ABO ACSL4 ALDOA CAT CD55 FUT1 G6PD GPI HK1 NDUFAB1 NT5E PKLR SCD TPI1 UGT1A1 UGT8	1604 2182 226 2523 2539 28 2821 3098 4706 4907 5313 54658 6319 7167 7368 847	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Wdr5	362093	Rattus norvegicus (Norway rat)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Wdr5	140858	Mus musculus (house mouse)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	Axn N	31293 43565	Drosophila melanogaster (fruit fly)
DOID:990	congenital heart block	CALR SIGLEC1	6614 811	Homo sapiens (human)
DOID:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111137	congenital generalized lipodystrophy type 3 Aliases: Berardinelli-Seip congenital lipodystrophy type 3	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGL AGPAT1 AGPAT2 AGPS ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 8540 952 9663	Homo sapiens (human)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	17158	Mus musculus (house mouse)

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