GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2576 - 2600** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)
DOID:12397	entropion	ATP6V1A	523	Homo sapiens (human)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)
DOID:0050476	Barth syndrome Aliases: 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II	ATRN HADHA PNPLA2	3030 57104 8455	Homo sapiens (human)
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	ATRN	8455	Homo sapiens (human)
DOID:0060287	cornea plana Aliases: flat cornea	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 DCN EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 1634 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:2303	stereotypic movement disorder Aliases: Stereotyped repetitive movements Stereotypy habit disorder	B3GALNT2 CHAT EXT2 GAD1 HGSNAT LMAN2L MAN1B1 MBOAT7 MGAT2 NDST1 OCRL PGAP1 PIGC ST3GAL3 ST3GAL5 TECR TKT TUSC3	1103 11253 138050 148789 2132 2571 3340 4247 4952 5279 6487 7086 79143 7991 80055 81562 8869 9524	Homo sapiens (human)
DOID:1088	meningocele	B3GALNT2 FKRP FKTN GMPPB LARGE1 LFNG POMGNT1 POMT1 POMT2 SC5D	10585 148789 2218 29925 29954 3955 55624 6309 79147 9215	Homo sapiens (human)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3GALNT2	148789	Homo sapiens (human)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:3149	keratoacanthoma	B3GAT1 CAT CD44 CYP24A1 HK2 INPP5A MMUT MOGS MRC1 PIK3CA PLD2 PPT1 PTGS1 PTGS2 SDC1 SDHD	1591 27087 3099 3632 4360 4594 5290 5338 5538 5742 5743 6382 6392 7841 847 960	Homo sapiens (human)
DOID:0080147	lymphoblastic lymphoma	B3GAT1 CD14 CD1D CD22 CD33 CD38 CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CHST9 CLEC12A COLEC10 CSPG4 CYP1A1 CYP1A2 CYP1B1 CYP2C8 CYP2E1 CYP3A5 EBP EFNA5 ENO2 FUT4 GML HMMR HPGDS HPRT1 HS3ST4 IDH1 IDH2 IDUA IL18R1 INPP5D ISYNA1 KLRK1 LGALS1 LGALS3 LPL MBL2 MOGS MTAP NCAM1 NT5E PIGL PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PNP PNPLA3 PRKAA2 PTEN SACM1L SFTPD SMUG1 SPHK2 ST8SIA6 UGT1A1	1012 1048 10584 10682 1087 1464 1543 1544 1545 1558 1571 1577 160364 1946 2026 22908 22914 23583 2526 27087 27306 2765 3161 3251 338596 3417 3418 3425 3635 3956 3958 4023 4153 4507 4680 4684 4860 4907 51477 5290 5291 5293 5294 5305 54658 5563 56848 5728 6441 7841 80339 83539 8809 912 929 933 945 9487 952 960 9951	Homo sapiens (human)
DOID:6536	plasma cell neoplasm Aliases: Plasma cell dyscrasia Plasma cell tumour Plasmacytic tumor	B3GAT1 CD38 CEACAM6 HAS1 LPL MAG NCAM1 PIGA PRSS21 PSAP PTEN SDC1	10942 27087 3036 4023 4099 4680 4684 5277 5660 5728 6382 952	Homo sapiens (human)
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	B3GAT1 FCGR3B IL18R1 KLRB1 NCAM1 SOAT1 TP53 UGCG	2215 27087 3820 4684 6646 7157 7357 8809	Homo sapiens (human)

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