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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 **4201 - 4225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110191	Charcot-Marie-Tooth disease type 4B1 Aliases: CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8776 8898 9517 960 9896	Homo sapiens (human)
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	ACAT1 ACE ACSBG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 ARSA ASAH1 B4GALT7 CALR CAT CD14 CD177 CD1D CD44 CD55 CEACAM5 CEACAM6 CEACAM7 CERK CERS2 CERS6 CH25H CHGA CHI3L1 CHST15 CHST4 CLEC7A CNTN3 COG6 CPT1B CRLS1 CSPG4 CTSA CYP27B1 CYP7B1 EFNA5 ENPP2 FDPS FUT2 FUT3 G6PC3 GALM GP2 GPIHBP1 GPX1 GPX2 GUSB HACD1 HPGDS HPRT1 HYAL2 ICAM1 IDH2 IL18R1 IL1R1 IL1RAP IL1RL2 INPP5D ISYNA1 KL LALBA LAYN LCT LGALS1 LGALS2 LGALS3 LPIN1 LYZ MBL2 MRC1 MUTYH NAMPT NT5E OGA PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCG1 PLD1 PLD2 PRKAA2 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 REG3G RGN SDC1 SDC2 SDC4 SELL SELP SFTPD SGMS2 SGPL1 SGPP1 SGPP2 SI SIGLEC1 SIGLEC8 SIRT6 SLC33A1 SMPD1 SMUG1 SPHK1 ST8SIA2 STS TM7SF2 VCAM1 VNN1 VTCN1	10135 10164 1048 10724 1087 1113 1116 11285 130120 130367 130589 1375 142 143903 1464 151056 1594 1604 1636 166929 1946 2224 23175 23205 23583 239 240 246 249 2524 2525 253782 27181 27306 2813 2876 2877 2990 29956 308 3251 3383 338328 3418 3554 3556 3635 38 3906 3938 3956 3957 3958 4069 410 412 4153 427 4360 4595 4680 4907 5067 5091 51363 51477 51548 5168 5290 5291 5293 5294 5315 5319 5320 5321 5335 5337 5338 54675 5476 5563 5652 5660 57126 5716 5728 5730 5742 5743 57511 6382 6383 6385 6402 6403 6441 64581 6476 64781 6609 6614 7108 7412 79679 811 8128 81537 8398 8399 847 8692 8808 8809 8876 8877 8879 9023 9104 912 9197 9200 92579 929 9365 9420 9536 960	Homo sapiens (human)
DOID:615	leukopenia Aliases: Leucopenia	ABO ADH1B AKR1B1 ALDH2 ATP6AP1 B3GAT1 CAT CD177 CD33 CEL CHPT1 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A4 CYP3A5 DCTD DHDDS EOGT FASN FCGR3B FH G6PC1 G6PC3 GBA1 HMGCL HMMR HPGDS HPRT1 ICAM1 IDUA LPIN2 MBL2 MMUT NAAA NCAM1 PARP1 PARP9 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SELE SELL SELP SFTPD SLC17A5 SLC27A5 SLC35A2 SLC37A4 SUCLA2 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS	1056 10998 125 142 1543 1545 1555 1557 1558 1559 1576 1577 160418 1635 217 2194 2215 2271 231 2538 2542 2629 26503 27087 27163 27306 28 285203 3155 3161 3251 3383 3425 4153 4594 4684 51302 5286 5290 5291 5293 5294 537 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 5743 6401 6402 6403 6441 7355 7364 7372 79947 83666 847 8794 8803 92579 945 9663	Homo sapiens (human)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	ABO ACACB ACE AKR1B10 AKR7A2 APRT ARSA ATP6AP2 B3GALNT1 CALR CD44 CEACAM5 CEACAM6 CEL CEMIP CHGA CHKA CHST15 COL9A2 CYP1B1 CYP3A5 CYP4F2 CYP4F3 DAG1 DPEP1 ENO1 FASN FBP1 FCN2 FOLR1 FOLR2 FUT8 GALNT5 GOLPH3 GOT1 GPC1 GPC5 HK1 IDH1 IDUA L1CAM LGALS1 LGALS3 LGALS4 MDH1 MMUT MRC1 MSLN MUTYH NAMPT NEU2 NT5E PAFAH1B2 PARP1 PDHX PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLD1 PNPLA2 PRKAA2 PRNP PTEN PTGS2 RECK REG3G SIGLEC7 SIRT6 SMUG1 SOAT1 ST6GAL1 VCAM1 VNN1	10135 10159 10232 1048 1056 1113 1119 11227 1298 130120 142 1545 1577 1605 1636 1800 2023 2194 2203 2220 2262 2348 2350 23583 2530 27036 28 2805 2817 3098 32 3417 3425 353 3897 3956 3958 3960 4051 410 4190 4360 4594 4595 4680 4759 4907 5049 51363 51548 5223 5230 5290 5291 5293 5294 5315 5337 5563 5621 57016 57104 57214 5728 5743 64083 6480 6646 7412 8050 811 8434 8529 8574 8706 8876 960	Homo sapiens (human)
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)
DOID:0080562	congenital disorder of glycosylation Ij Aliases: Congenital disorder of glycosylation 1j	DPAGT1	1798	Homo sapiens (human)
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	CAT GFRA1 GFRA2 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG RPE SIGLEC7	2674 2675 27036 3956 5290 5291 5293 5294 6120 847	Homo sapiens (human)
DOID:1271	capillary disease Aliases: disease of capillaries	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:13328	diabetic cataract Aliases: Cataract - diabetic	ACE AKR1A1 AKR1B10 AKR1B1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GALK1 GALT GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PRKAA2 PRNP PTEN PTGS2 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TM7SF2 UMOD UPP1 VCAM1	1012 10159 10327 142 1636 217 231 23409 23545 2517 2571 2572 2584 2592 2597 2645 266722 2678 2739 2752 3099 3383 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7108 7369 7378 7412 7903 7941 847 8473 8704 929 9388 972	Homo sapiens (human)
DOID:0110211	Charcot-Marie-Tooth disease X-linked recessive 3 Aliases: CMT3X CMTX3 Charcot-Marie-Tooth neuropathy X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	DLD ECHS1 GYG2 HIBCH HSD17B6 MRC1 OGDH PDHA1 PDHB PDHX PGD PTGS1 SDHA SDHB SDHC SLC39A8 SUCLA2 SUCLG1 TKT TYMP	1738 1890 1892 26275 4360 4967 5160 5162 5226 5742 6389 6390 6391 64116 7086 8050 8630 8802 8803 8908	Homo sapiens (human)
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CALR CEL FCN2 G6PC3 ICAM1 ISYNA1 LGALS9 MBL2 MICA NTM PARP9 PGM3 PIK3CD RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 TNF	100507436 1056 10998 2220 3383 3965 4153 50863 51477 5238 5293 56963 6440 6441 653509 7124 729238 811 83666 92579	Homo sapiens (human)
DOID:7608	parathyroid adenoma Aliases: adenoma of the Parathyroid gland	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)
DOID:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)
DOID:7005	gemistocytic astrocytoma Aliases: Gemistocytic Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	Homo sapiens (human)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)

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