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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 **5326 - 5350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	CEL EHHADH GCK HADH HAO1 HAO2 HK2 HK3 HKDC1 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3099 3101 4351 51179 5236 5373 54363 80201 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1428	endocrine pancreas disease	GCK PDHX	2645 8050	Homo sapiens (human)	DisGeNET
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ARSA B3GAT1 CAT CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TMEM165 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 6646 8434 847 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3196	cellular schwannoma Aliases: cellular Neurinoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	ARSA B3GAT1 CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TP53 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 5621 5728 5743 6646 7157 8434 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:683	motor neuritis Aliases: peripheral motor neuropathy	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1803	neuritis Aliases: peripheral neuritis	AMACR GLO1 PTEN SCP2 SMUG1	23583 23600 2739 5728 6342	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:769	neuroblastoma	AACS ACADM ACAT1 ACHE ACO1 ADH1A AKR1B1 ALDH1A3 ALDOC ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 APRT ARSA ARSF ARSH ASAH2 B3GAT1 B3GNT3 B4GALNT1 B4GALT3 CALR CAT CCDC115 CD14 CD177 CD1D CD248 CD38 CD44 CD55 CDH13 CEACAM5 CERK CERS1 CFC1 CHAT CHGA CHKA CHPT1 COMT CS CYP19A1 CYP3A4 CYP3A5 DCN DGCR2 DHCR24 DHDDS DLD EBP ENO1 ENO2 ENPP2 EXTL1 FCGR3B FCN2 FH FIG4 G6PC1 G6PD GAD1 GALNT14 GALNT9 GAPDH GAS1 GBA1 GCNT1 GDPD5 GFRA2 GLB1 GLDC GOLPH3 GPC2 GPC3 GPX1 GUSB HAS3 HK2 HPGDS HPRT1 HPSE HSD17B12 HSD17B6 ICAM1 ICAM2 IL18R1 ITLN1 KLRK1 L1CAM LDHA LDHB LDHC LGALS1 LGALS3 LGALS4 LMAN2 LYPD5 MAG MCAT MGAT2 MGAT5 MGAT5B MGLL MICA MMUT MRC1 MTAP NAGLU NAMPT NANS NCAM1 NCAN NEU4 NT5E OGDH PARP1 PARP2 PARP3 PDIA3 PFKFB3 PGK1 PGP PIK3C2B PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PNP PNPLA6 POMGNT1 PPT1 PPT2 PRKAA2 PRNP PRPS1 PTEN PTGES PTGS2 QPRT RECK RENBP RTN4R SDC1 SDHA SDHB SDHC SDHD SELE SELP SHMT2 SIGLEC7 SIRT4 SIRT6 SLC2A3 SLC2A5 SLC39A8 SMUG1 SOAT1 SORD SPHK2 ST8SIA1 ST8SIA2 ST8SIA4 SUCLA2 SULF2 SYNJ1 TNFRSF10C TNKS TPI1 TYMP VCAM1 VCAN	10038 10039 100507436 1012 10135 10331 1048 10682 10715 10855 10908 10960 1103 1113 1119 11343 124 129807 1312 142 1431 1462 1463 146664 151056 1576 1577 1588 1604 1634 1718 1738 1890 2023 2026 2134 220 2215 221914 2220 2271 22914 230 231 23236 23409 23475 23583 23600 239 240 248 250 2538 2539 2571 2583 2597 2619 2629 2650 2675 27036 27087 2719 2720 27306 2731 27349 283871 284348 2876 2923 2990 3038 308 3099 3251 3383 3384 34 347527 353 38 3897 3939 3945 3948 3956 3958 3960 4099 410 416 4247 4249 43 4360 4507 4594 4669 4684 48 4860 4907 4967 50614 51144 51548 5168 5209 5230 5287 5288 5290 5291 5293 5294 5319 5320 5321 54187 5538 55600 55624 5563 55959 55997 5621 5631 56624 56848 56994 57124 57126 5728 5743 5973 6382 6389 6390 6391 6392 6401 6403 64083 64116 6472 64781 6489 65078 6515 6518 65985 6646 6652 7167 7412 7903 79623 79947 811 8128 81544 8398 84317 8434 847 8630 8658 8703 8794 8803 8809 8867 912 929 9374 952 9536 960 9896 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:962	neurofibroma	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)	DisGeNET
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)	DisGeNET
DOID:2001	neuroma	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:440	neuromuscular disease	ACE ACHE ACSL4 APRT CHAT DAG1 FKRP GAA GFPT1 GNE GPI MAG MGAM MTM1 PIK3CA PIK3CB PIK3CD PKD1L2 POMT1 PTGS1 TPI1	10020 10585 1103 114780 1605 1636 2182 2548 2673 2821 353 4099 43 4534 5290 5291 5293 5742 7167 79147 8972	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	ACE CD55 CH25H CYP27B1 CYP7A1 FUT4 GPC5 PIK3CA PIK3CB PIK3CD PIK3CG RGMA SDC1	1581 1594 1604 1636 2262 2526 5290 5291 5293 5294 56963 6382 9023	Homo sapiens (human)	DisGeNET
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3896	hidradenoma Aliases: Hidradenoma of skin Sweat gland adenoma Syringoadenoma	AMACR CD44 CEACAM5 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	1048 10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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