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 **6451 - 6475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	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:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:12161	peripheral retinal degeneration Aliases: peripheral degeneration of retina	ARSG FKRP FKTN HGSNAT LARGE1 POMGNT1 POMT1 POMT2 RPE	10585 138050 2218 22901 29954 55624 6120 79147 9215	Homo sapiens (human)
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	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: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:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:631	fibromyalgia	ACADL ACE ACHE APRT CALR CAT CD22 CNTN3 COMT CPT2 CRPPA DSE ENO1 ENO3 ENPP2 EXT1 FKRP FKTN FMOD FOLR2 GLA GOLPH3 GPX1 HADHA HADHB HPGDS HSD11B1 HSPG2 KLRC1 KLRD1 L1CAM LALBA LDHA LGALS8 LPIN1 LPIN2 NT5E PCYT1A PIGT PIK3C2A PNPLA2 POMT1 PRKAA2 PTGS2 SELL SLC17A5 VCAM1	10585 1312 1376 1636 2023 2027 2131 2218 23175 2331 2350 26503 2717 27306 2876 29940 3030 3032 3290 33 3339 353 3821 3824 3897 3906 3939 3964 43 4907 5067 5130 51604 5168 5286 5563 57104 5743 6402 64083 729920 7412 79147 811 847 933 9663	Homo sapiens (human)
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ACOX1 ACSL4 AGK ALDH3A2 ATP6V0A2 B3GALNT2 B3GALT6 B3GLCT CHST14 COL9A2 DAG1 DCN ENPP1 FKRP FKTN FMOD GLUL GMPPB GNPTG GPAA1 GPD2 HADHA HAS2 HS6ST2 HSPG2 LARGE1 LPIN2 NTM NYX PCYT1A PIK3CA PIK3CG PLOD3 PMM2 POMGNT1 POMK POMT1 POMT2 PSMD10 PTEN PXYLP1 RPE SDHC SDHD SLC2A10 SMC3 TMTC3 VCAN XYLT1 XYLT2	10585 113189 126792 1298 145173 1462 148789 160418 1605 1634 2182 2218 224 2331 23545 2752 2820 29925 29954 3030 3037 3339 50863 51 5130 5167 5290 5294 5373 55624 55750 5716 5728 60506 6120 6391 6392 64131 64132 79147 81031 84197 84572 8733 8985 90161 9126 9215 92370 9663	Homo sapiens (human)
DOID:0080033	craniometaphyseal dysplasia	ACE CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 1605 1636 2218 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	ACE ALPL B4GALNT2 CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 124872 1605 1636 2218 249 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0080102	congenital myopathy 4A Aliases: CFTD congenital fiber-type disproportion	B4GAT1 CD38 CHKB FKRP FKTN HACD1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1	10585 11041 1120 2218 4534 55624 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110634	congenital muscular dystrophy 1B Aliases: CMD1B MDC1B congenital muscular dystrophy type 1B	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CRPPA FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 729920 79147 9200 9215 952	Homo sapiens (human)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 DAG1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 1605 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 CSPG4 DCN FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2 SOAT1	10585 11041 1120 1272 1464 1634 217 2218 2632 3098 31 43 4534 55624 5563 64419 6646 79147 9200 9215 952	Homo sapiens (human)
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)

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