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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **2676 - 2700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COG3 CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 83548 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B Aliases: LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP ANXA5 APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 308 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COMT CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 1312 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SULT1E1 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 6783 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H Aliases: LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:423	myopathy	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR1 MTMR2 NCAM1 NPL PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SDHB SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6390 6440 64419 6476 653509 7108 7167 729920 79147 80896 81035 847 85365 8694 8776 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4873	anterior horn cell disease	ACHE APRT ASAH1 CAT CLEC10A DAG1 FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 MTMR4 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 1605 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9110 9514 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10264	mumps	ICAM1 IL18R1 MRC1 SOAT1	3383 4360 6646 8809	Homo sapiens (human)	DisGeNET
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	ABO ACAN ACE ACHE ACO2 ACOT7 ADIPOQ AGA AKR1B1 ALOX15 ALOX5 AMACR AMT ANXA5 APRT ARSA ARSF ATP6AP2 B3GAT1 B4GALT5 B4GALT6 BST2 CANX CAT CD14 CD177 CD1D CD38 CD44 CD48 CD74 CEACAM5 CEACAM7 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CHIT1 CLEC12A CLEC16A CLEC4E CNTN1 COLEC12 COMT CPT1A CSGALNACT1 CSGALNACT2 CYP17A1 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 CYP3A4 CYP46A1 CYP7A1 CYP7B1 DCN DHCR24 DHCR7 DHRS11 DLD ENO1 ENPP2 FCGR3B FH FOLR2 GAD1 GAD2 GALC GANAB GAPDH GBE1 GLA GLO1 GPC5 GPI H6PD HPGDS HPRT1 HPSE HSD17B6 HSD17B7 ICAM1 ICAM5 IGF2 IL18R1 INPP4B ISYNA1 ITLN1 KL KLRB1 KLRC1 KLRD1 KLRK1 LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LPL MAG MANBA MASP1 MASP2 MBL2 MGAT1 MGAT5 MICA MMP25 MOGAT1 NCAM1 NCAN NT5E OGG1 OLR1 PARP1 PC PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLD1 PPT2 PRNP PSMD10 PTGES PTGS2 QTRT1 RGMA RGMB RTN4R SDC1 SELE SELP SEMA7A SGPL1 SHMT1 SIGLEC1 SIRT2 SLC2A4 SMPD1 SOAT1 SPHK1 SPHK2 ST8SIA1 SUMF1 TALDO1 TKT TLR4 TMED5 TNF TNFRSF10C TPI1 VCAM1	100507436 10159 1048 10747 10855 10858 1087 1103 1113 1116 1118 11332 116255 120227 1272 1312 1374 142 1463 151056 1545 1555 1557 1559 1576 1581 1586 1589 1591 1593 1594 160364 1634 1636 1717 1718 1738 175 176 2023 2215 2262 2271 22914 22933 231 23193 23274 2350 23600 240 246 253782 2571 2572 2581 2597 26253 2632 27087 2717 27306 2739 275 28 2821 285362 285704 29956 308 3251 3383 3481 353 3820 3821 3824 3906 3939 3956 3958 3964 3965 4023 4099 410 4126 4153 416 4245 4249 43 4684 4907 4968 4973 50 5091 50999 5105 51477 51478 5168 5290 5291 5293 5294 5319 5320 5321 5337 55454 55600 55790 5621 5648 56848 56963 57126 5716 57214 5743 6382 6401 6403 64386 6470 6489 65078 6517 6609 6614 6646 684 6888 7086 7087 7099 7124 7167 7412 79154 7941 81035 81890 821 8398 847 8482 8630 8794 8809 8821 8877 8879 9023 912 929 9331 9334 9365 9370 9374 9420 952 9536 9563 960 962 972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABO ACE ACSBG1 ALOX5 ALPI ALPP AMY1A AMY1B AMY1C ANXA5 APRT B3GAT1 BST2 CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD74 CEACAM6 CHI3L1 CHPT1 CLEC12A COLEC10 CPT1C CRYBG1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 DCN DHCR24 DHDDS DLD ENO1 ENPP1 ENPP2 EXT1 FASN FCER2 FCGR3B FDPS FH FOLR1 FOLR2 FUT1 G6PD GAPDH GBA1 GLB1 GLO1 GPX1 GPX3 HAS1 HAS2 HK1 HK2 HMMR HPGDS HPSE2 HPSE ICAM1 IDH1 IDH2 IDUA IGF2R IL1RL1 INPP5D INPPL1 KL KLRB1 KLRC1 KLRK1 LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LPL MBL2 MCAT MICA MINPP1 MMP25 MPG MRC1 NAGLU NAMPT NCAM1 NEIL1 OGA PAFAH1B1 PARP14 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLAUR PPT2 PRKAA2 PSAP PSMD10 PTEN PTGS1 PTGS2 RECK RENBP RPIA SDC1 SELE SELL SELP SIGLEC1 SIRT6 SLC2A12 SLC2A4 SLC2A8 SLC35A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL6 TDG TNF TNFRSF10C TNKS TP53 TYMP UGCG ULBP2 VCAM1 VCAN	100507436 10135 10402 10584 10724 10855 1116 113829 126129 142 1462 154091 1543 1545 1555 1557 1558 1559 1576 160364 1634 1636 1718 1738 1890 200576 202 2023 2131 2194 2208 2215 2224 2271 22914 22934 23205 2348 2350 23583 240 248 250 2523 2539 2597 2629 27087 2720 27306 27349 2739 276 277 278 28 2876 2878 29988 3036 3037 308 3098 3099 3161 3383 3417 3418 3425 3482 353 3635 3636 3820 3821 3939 3956 3958 3960 3964 3965 4023 4153 4350 4360 4669 4680 4684 5048 5130 51548 5167 5168 5209 5277 5290 5291 5293 5294 5315 5329 54625 5552 5563 5660 56848 56994 5716 5728 5742 5743 5973 60495 6382 6401 6402 6403 64386 6517 6609 6614 6646 684 6996 7124 7157 7357 7412 79661 79947 80328 821 8434 847 8658 8794 8877 912 9173 929 933 9365 9374 945 952 9562 960 962 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ACAN AGA APRT ARSA ARSB ARSG ARSH ARSK CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1	10020 10724 138050 153642 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 79158 821 84572 847 8692 912 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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