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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 **6801 - 6825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ABO ACACA ACADM ACADS ACAN ACAT1 ACE ACHE ACLY ACOT7 ACSL5 ACSL6 ACSS2 ADIPOQ ADRB3 AGPAT2 AKR1B1 ALDH2 ALDH7A1 ALG12 ALG9 ALOX12 ALOX15 AMACR ANXA5 APRT ARSB ARSD ATP6AP2 ATP6V1A BDH1 CALR CAT CBR3 CD14 CD44 CDS1 CDS2 CERS1 CERS5 CHGA CHI3L1 CHPT1 CNTN5 COG7 CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F3 DAG1 DCN DGAT1 DLD DLST EBP ELOVL6 ENO2 ENPP1 EPHX2 FADS1 FADS2 FASN FDPS FH FKRP FKTN FMOD G6PD GAD1 GAL3ST1 GALNT1 GAPDH GBA1 GBE1 GLA GLB1 GNPTAB GPD1L GUSB HADH HADHA HADHB HJV HK2 HMGCL HPGDS HSD11B1 HSPG2 HTR2A ICAM1 IDS IGF2R IL1RL1 INPPL1 ISYNA1 ITPK1 KL KLRK1 LCAT LEPR LGALS16 LGALS1 LGALS3 LIPC LPIN2 LPL LY75 LYZ MCAT MDH2 ME1 MGAT1 MMUT MPI MRC1 NAGLU NAMPT NANS NCAM1 NDUFAB1 NPL NT5E NTM OGA OGDH OGT OLR1 PAFAH1B1 PARP1 PCK1 PGK1 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLA2G2A PLA2G7 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP3 PNPLA2 POFUT1 PPP1CC PPP1R3A PPT1 PRKAA2 PTEN PTGIS PTGS1 PTGS2 RBP4 RENBP SCD SDC1 SDC2 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELP SFTPD SGPL1 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMPD2 SMUG1 SOAT1 SPHK1 SRGN STS SUCLA2 SULT1E1 TM7SF2 TMTC3 TNF TPI1 UCP2 UGT1A1 UGT2B7 UMOD VCAM1 XYLT1 XYLT2	10135 10159 1040 10555 10559 10682 10715 10724 1113 1116 11332 1374 1375 1376 142 1431 148003 148738 1543 1544 1545 155 1555 1557 1571 1573 1576 1577 1584 1585 1594 160418 1605 1634 1636 1738 1743 176 1836 2026 2053 217 2194 2218 2224 2271 22914 231 23171 23305 2331 23509 23583 23600 23659 239 246 2539 2571 2589 2597 2629 2632 26503 27111 2717 2720 27306 27349 28 2990 3030 3032 3033 308 3099 31 3155 3290 3339 3356 3383 34 3423 3482 35 353 3636 3705 38 3931 3953 3956 3958 3990 3992 4023 4051 4065 4069 411 412 414 4191 4199 4245 43 4351 4360 4594 4669 4684 47 4706 4907 4967 4973 501 5048 50863 5105 51196 51477 51548 5167 51703 523 5230 5281 5290 5291 5293 5294 5310 5311 5320 5333 5335 5337 5338 53942 54187 54658 5501 5506 5538 5552 5563 55902 56994 57104 5728 5740 5742 5743 5950 5973 622 6319 6382 6383 6385 6389 6390 6391 6392 6401 6403 64116 64131 64132 6441 6517 6523 6609 6610 6646 6783 7108 7124 7167 7351 7364 7369 7412 79071 79087 79147 79158 7941 79796 80896 81031 811 847 8473 8613 8694 874 8760 8803 8877 8879 91012 9173 91949 9197 929 9365 9370 9415 9514 960 9663	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	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:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	INPP4B MASP1 OPCML SARM1	23098 4978 5648 8821	Homo sapiens (human)
DOID:0050674	congenital bile acid synthesis defect Aliases: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency	AKR1D1 AMACR CYP7A1 CYP7B1 HSD3B7	1581 23600 6718 80270 9420	Homo sapiens (human)
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)
DOID:5376	skin pilomatrix carcinoma Aliases: Pilomatricoma, malignant malignant Pilomatricoma	SMUG1	23583	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:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	CDH13 CYP17A1 CYP19A1 PKM PTEN PTGS2 TKTL1	1012 1586 1588 5315 5728 5743 8277	Homo sapiens (human)
DOID:14270	ascending cholangitis	CLEC16A FUT2 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A MANBA MGLL PLA2G10 PLA2G2A PLA2G2D SMUG1 STS	11343 23274 23583 2524 26279 3383 3554 3632 412 4126 5320 64090 8399 8809	Homo sapiens (human)
DOID:0050336	hypophosphatemia	ACOT8 ALDOB ALG13 CTNS CYP27B1 CYP2R1 ENPP1 KL NAMPT OCRL SLC2A2 SUCLG1	10005 10135 120227 1497 1594 229 4952 5167 6514 79868 8802 9365	Homo sapiens (human)
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	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:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	ACSS2 AMY1A AMY1B AMY1C APRT ENPP1 PLA2G15 SUCLG1	23659 276 277 278 353 5167 55902 8802	Homo sapiens (human)
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	ALDH1A3	220	Homo sapiens (human)
DOID:4514	thyroid angiosarcoma Aliases: hemangiosarcoma of the Thyroid	PTGS2	5743	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)
DOID:10017	multiple endocrine neoplasia type 1 Aliases: MEN type I Wermer syndrome Wermer's syndrome	ABO APRT CD109 CYP24A1 FUT4 GAPDH GFRA4 PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PTEN PYGM RENBP SDHA SDHB SDHC SDHD SMUG1 SORD SULT1E1	135228 1591 23583 2526 2597 28 353 5290 5291 5293 5294 5331 5728 5837 5973 6389 6390 6391 6392 64096 6652 6783	Homo sapiens (human)
DOID:0110523	autosomal recessive nonsyndromic deafness 74 Aliases: DFNB74 autosomal recessive deafness 74	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	ACE CD44 CHIA CPM PTEN PTGS2 SDC2 SELL SFTPD TM7SF2 TNF	1368 1636 27159 5728 5743 6383 6402 6441 7108 7124 960	Homo sapiens (human)
DOID:0110723	neuronal ceroid lipofuscinosis 8 Aliases: CLN8	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:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	NTHL1 PGAP1 ST3GAL3 TECR TUSC3	4913 6487 7991 80055 9524	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)

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