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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 **3126 - 3150** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0110801	hereditary spastic paraplegia 49 Aliases: SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110775	hereditary spastic paraplegia 24 Aliases: SPG24 autosomal recessive spastic paraplegia 24 autosomal recessive spastic paraplegia type 24	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110788	hereditary spastic paraplegia 37 Aliases: SPG37 autosomal dominant spastic paraplegia 37 autosomal dominant spastic paraplegia type 37	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110783	hereditary spastic paraplegia 32 Aliases: SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110781	hereditary spastic paraplegia 30 Aliases: SPG30 autosomal spastic paraplegia type 30	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 FIG4 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420 9896	Homo sapiens (human)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG NT5E PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 4907 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110786	hereditary spastic paraplegia 35 Aliases: FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PLB1 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 151056 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110763	hereditary spastic paraplegia 10 Aliases: SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ACE B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 23646 2583 27163 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:9809	hypersensitivity vasculitis	ABO ACE B3GAT1 B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 FCGR3B GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 2215 23646 2583 27087 27163 28 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	ABAT CD55 CHKB COMT HACD1 LGALS3 PNPLA6 PRNP SMUG1	10908 1120 1312 1604 18 23583 3958 5621 9200	Homo sapiens (human)
DOID:2537	inflammatory and toxic neuropathy	ACE ACHE ARSA B3GAT1 BST1 CAT CD14 CD44 CD55 CHI3L1 COMT CYP7B1 DEGS1 FUCA1 GPI GPX1 HADHB HTR2A LGALS1 MAG NGLY1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA6 PRKAA2 PRNP PRPS1 PSAP PTGS2 RPIA SCP2 SMUG1 TKT	10908 1116 1312 1604 1636 22934 23583 2517 27087 2821 2876 2923 3032 3356 3956 4099 410 43 4860 4968 5290 5291 5293 5294 5373 5563 55768 5621 5631 5660 5743 6342 683 7086 847 8560 929 9420 960	Homo sapiens (human)
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:3852	Peutz-Jeghers syndrome Aliases: Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:14402	critical illness polyneuropathy	ACE AGRN ARSA B3GAT1 CAT CD55 CHAT COMT CYP7B1 DEGS1 FUCA1 GPX1 HADHB MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1103 1312 1604 1636 22934 2517 27087 2876 3032 375790 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:3327	partial motor epilepsy Aliases: Focal motor seizure epilepsy, focal motor	ABAT ACAT1 ACHE ALG1 ALPL B3GALNT2 CAT CHAT CNTN2 CYP11A1 DAG1 ENO2 GAD1 GAD2 IDH2 IMPA1 LMAN2L MAN1B1 MBOAT7 ME1 NDST1 PGAP1 PIGC PIGM PLCB1 PNPLA6 PTEN PTGS2 SLC33A1 SMUG1 ST3GAL3 STT3A TECR TMTC3 TUSC3	10908 1103 11253 148789 1583 160418 1605 18 2026 23236 23583 249 2571 2572 3340 3418 3612 3703 38 4199 43 5279 56052 5728 5743 6487 6900 79143 7991 80055 81562 847 9197 93183 9524	Homo sapiens (human)

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