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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 **1351 - 1375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0070161	hereditary sensory and autonomic neuropathy type 2 Aliases: HSAN2 hereditary sensory and autonomic neuropathy type II	ACE ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	Homo sapiens (human)
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	AGXT CYP4F3 GAS1 SPTLC1 SPTLC2	10558 189 2619 4051 9517	Homo sapiens (human)
DOID:13072	acquired hyperkeratosis Aliases: Keratoderma - acquired Keratoderma, acquired acquired keratoderma	ALDH3A2 ALOX12B APRT B3GAT1 CAT CD44 CLEC7A COG6 ELOVL4 ENPP1 GBA1 GLA MOGS MPDU1 MRC1 NAGA NEU1 NSDHL OGG1 PIGL PIK3CA PTGS2 SDC1 SPTLC1 SRD5A3 STS SULT2B1	10558 224 242 2629 27087 2717 353 412 4360 4668 4758 4968 50814 5167 5290 5743 57511 6382 64581 6785 6820 7841 79644 847 9487 9526 960	Homo sapiens (human)
DOID:11589	Riley-Day syndrome Aliases: HSAN III familial autonomic nervous dysfunction familial dysautonomia	GLA HMGCS2 ICAM1 SPTLC1	10558 2717 3158 3383	Homo sapiens (human)
DOID:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	Homo sapiens (human)
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)
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)
DOID:936	brain disease Aliases: encephalopathy	ACE ACHE ACSF3 AMACR AMT APRT ARSA ATP6V1A CAT CEL CLN5 COG8 CPT2 CYB5R3 CYP2B6 CYP2R1 CYP46A1 DLD ENO2 FCN2 FDPS FH FUT8 GBA1 GCDH GCSH GLDC GLUL GLYCTK HIBCH HMGCL HPGDS IDH3A IDS LGALS3 MCAT NCAN NTNG1 OGG1 PARP9 PDHX PGAP1 PIGA PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G6 PLCB1 POMT1 PPT1 PRNP PTEN PTGES PTGS2 RTN4R SDC2 SDHA SLC27A5 SLC2A3 SLC33A1 SLC35A1 SLC35A2 SMUG1 SUCLG1 SYNJ1 TM7SF2 UGT1A1 VCAN	10559 1056 10585 10858 10998 120227 1203 132158 1376 1462 1463 1555 1636 1727 1738 197322 2026 2220 2224 2271 22854 23236 23583 23600 2530 26275 2629 2639 2653 27306 2731 27349 275 2752 3155 3419 3423 353 3958 410 43 4968 51604 523 5277 5290 5291 5293 5294 5315 54658 5538 5621 5728 5743 6383 6389 65078 6515 7108 7355 80055 8050 83666 8398 84342 847 8802 8867 9197 9536	Homo sapiens (human)
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 ALOX12 AMACR ARSI CA4 CACNA2D4 CANX CD38 CD44 CD48 CD74 CNTN3 CNTN6 COG4 CTNS CYP19A1 DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GAL3ST1 GK GLO1 GMPPB GNPTG H6PD HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD11B1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LGALS1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RGMA RPE SDHA SDHB SDHD SFTPD SGSH SIGLEC7 SLC35A1 SMC3 SOAT1 SYNJ1 TMED3	10559 10585 10908 131 138050 1497 1588 1636 1892 2194 224 23423 23600 239 2539 25839 27036 2710 27255 2739 28 29925 29954 3030 3032 3033 3098 3099 3290 340075 3418 3419 3420 3612 3956 4190 4669 501 5067 51 5160 5290 5291 5293 5294 5373 55624 55768 5621 56963 57104 5728 60506 6120 6389 6390 6392 6441 6448 6646 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 93589 9365 9514 952 9563 960 962 972	Homo sapiens (human)
DOID:9650	pathologic nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:13174	dissociated nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:11771	spontaneous ocular nystagmus Aliases: Ocular nystagmus Searching eye movements visual deprivation nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:9649	congenital nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)
DOID:681	progressive bulbar palsy	AGRN ARSA CHAT GAL3ST1 SLC35A1	10559 1103 375790 410 9514	Homo sapiens (human)
DOID:0050759	myotonic dystrophy type 2	ACE ACHE ALPP ATRNL1 CHI3L1 CNTN2 CYP2B6 CYP51A1 DAG1 FASN GAL3ST1 GCK HSPG2 IDS IL18R1 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 PRNP QTRT1 SELE SELP SI SLC2A4 SLC35A1 SLC35G1 ST8SIA4 UGT8	10559 1116 1555 159371 1595 1605 1636 2194 23236 250 26033 2645 283871 3339 3423 4023 43 4360 4534 5226 5286 5290 5291 5293 5294 5563 5621 6401 6403 6476 6517 6900 7368 7903 81890 8776 8809 8972 9514	Homo sapiens (human)
DOID:9191	diabetic macular edema	CD14 CHI3L1 GAL3ST1 HK1 ICAM1 LGALS1 PLA2G7 RPE SLC35A1	10559 1116 3098 3383 3956 6120 7941 929 9514	Homo sapiens (human)
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	ACE APRT COMT GAL3ST1 INPP5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PTEN SELE SLC35A1	10559 1312 1636 342372 353 5130 5290 5291 5293 5294 5310 5311 5313 56623 5728 6401 8394 9514	Homo sapiens (human)
DOID:0111005	cone-rod dystrophy 2 Aliases: CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2	ALOX12 CACNA2D4 CD38 CNTN3 CNTN6 CYP19A1 ELOVL4 GAL3ST1 H6PD HSD11B1 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RGMA SIGLEC7 SLC35A1 SOAT1	10559 1588 239 27036 27255 3290 3956 5067 5290 5291 5293 5294 56963 5728 6646 6785 93589 9514 952 9563	Homo sapiens (human)
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	DOLK DPM1 MOGS MPDU1 MPI PMM2 SLC35A1 SRD5A3	10559 22845 4351 5373 7841 79644 8813 9526	Homo sapiens (human)
DOID:3389	Papillon-Lefevre disease Aliases: Papillon Lefevre syndrome Papillon-Lefvre syndrome	ABO FIG4 GAL3ST1 SLC35A1	10559 28 9514 9896	Homo sapiens (human)

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