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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 ▲
DOID:0070226	progressive familial intrahepatic cholestasis 1 Aliases: FIC1 deficiency PFIC1	ABO GGT1 HSD3B7 NAGLU OGA	10724 2678 28 4669 80270	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS	2224	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: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:0060452	posterior amorphous corneal dystrophy Aliases: PACD chromosome 12q21.33 deletion syndrome	DCN	1634	Homo sapiens (human)
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)
DOID:3721	plasmacytoma Aliases: Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma	ACE ACSL6 AKR1C4 ALOX5 CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYP1A1 CYP2B6 ENPP1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL NCAM1 PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 23305 23583 240 2539 27306 3383 3417 3418 3956 3958 4023 4684 5130 51477 5167 5277 5290 5291 5293 5294 5329 57126 5728 6382 6646 811 847 8809 9023 945 952	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:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	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: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:3304	germinoma	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 BRAF CALR CD44 CLEC10A CYP19A1 DHDH GOLPH3 GPC3 HPGDS IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2719 27294 27306 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 673 811 8277 8644 9388 960	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: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:4310	smooth muscle tumor	CD44 FH LGALS3 SMUG1	2271 23583 3958 960	Homo sapiens (human)
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:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	PIK3CA PTGES	5290 9536	Homo sapiens (human)
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)
DOID:10493	adrenal cortical hypofunction Aliases: Adrenal Cortical Insufficiency Corticoadrenal insufficiency	CD14 CLEC16A CYP11A1 CYP11B1 CYP17A1 CYP21A2 CYP27B1 CYP2B6 GAD2 GLUL GMPPA HSD11B1 HSD17B4 LIPA MICA PLA2G2A SGPL1 TM7SF2 UGT2B28	100507436 1555 1583 1584 1586 1589 1594 23274 2572 2752 29926 3290 3295 3988 5320 54490 7108 8879 929	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:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)

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