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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 **4926 - 4950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	ALPL FUT4 PSMD10 PTEN	249 2526 5716 5728	Homo sapiens (human)	DisGeNET
DOID:419	scleroderma Aliases: dermatosclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:9565	dextrocardia Aliases: Heart predominantly in right hemithorax	INPP5E PKD1 TGDS	23483 5310 56623	Homo sapiens (human)	DisGeNET
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)	DisGeNET
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	ABO ACOT7 ACSS2 ALG9 APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 ENO2 GFRA1 HPSE ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHB SDHC SDHD SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 2026 22854 23583 23659 2674 27087 28 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6390 6391 6392 6713 7108 79796 811 945 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11103	rickettsialpox Aliases: Rickettsia akari spotted fever Vesicular rickettsiosis	CS	1431	Homo sapiens (human)	DisGeNET
DOID:823	periapical periodontitis Aliases: Apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)	DisGeNET
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)	DisGeNET
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050948	autosomal dominant hypophosphatemic rickets	ENPP1 GALNT8 KLB	152831 26290 5167	Homo sapiens (human)	DisGeNET
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ABAT ABO ACAA2 ACAN ACE ACLY ACO1 ACSL4 ACSL6 AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA B3GAT1 B4GALNT3 B4GALT7 BAD BST2 CALR CAT CD14 CD38 CD44 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHIT1 CHST11 CHST13 CHST4 CLC CLEC3A CLEC5A CLEC7A COG5 COL9A2 COLGALT2 COMT CSPG4 CYP19A1 CYP1B1 CYP7B1 DCN DPEP1 ENO1 ENPP1 ERRFI1 EXT1 EXT2 FASN FCGR3B FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GALNT3 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 HADHA HAS1 HIBCH HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSPG2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IGF2 IL18R1 IL1R1 IL1RL2 INPP5D INS ISYNA1 KL KLRB1 LAYN LCTL LEP LGALS1 LGALS3 LGALS8 LGALS9 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PCYT1A PDHA1 PDIA3 PFKFB3 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4A PLA2G4F PLAUR PLB1 PLCD1 PLCG1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SFTPD SGSH SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN STS SULF1 SULF2 TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 UST VCAM1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 1118 11285 1178 1298 1312 142 143903 1464 151056 1545 1588 1634 1636 1645 1646 166012 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 226 2271 22933 23127 23171 23193 23213 23305 2331 23583 23601 240 246 249 2523 2524 2526 255189 2591 2597 26275 2629 2645 26503 2678 27036 27087 27163 2717 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 3030 3036 308 3098 3099 3161 3251 3290 3339 3373 3383 3418 3419 3481 353 3554 3630 3635 3820 3952 3956 3958 3964 3965 410 412 4360 4595 4684 47 48 4907 4952 4973 4978 50515 5130 51477 51548 5160 5167 5209 5223 5290 5291 5293 5294 5315 5319 5321 5329 5333 5335 54206 5552 5563 55830 55959 5621 56848 572 57214 5728 5730 5742 5743 5973 6382 6385 6389 6401 64116 64131 64386 6441 6448 64581 6472 6646 684 7108 7167 7412 79966 80339 811 8277 8434 847 8658 8692 8794 8808 8809 8877 90161 9023 9060 929 9365 9420 9514 952 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	L1CAM PIK3CA PTEN SMUG1	23583 3897 5290 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080324	tuberous sclerosis 1	ABO AMACR APRT CANX CBR1 FCN2 HEXD ICAM1 MLYCD OGA OGG1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLB1 PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SDC2 SDHB SORD TKT	10724 151056 2220 23417 23600 28 284004 3383 353 4968 5289 5290 5291 5293 5294 5310 5333 5563 5728 5742 5743 6383 6390 6652 7086 821 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	ICAM1 NCAM1 PTEN	3383 4684 5728	Homo sapiens (human)	DisGeNET
DOID:1639	skeletal tuberculosis Aliases: osteoarticular tuberculosis	AGA	175	Homo sapiens (human)	DisGeNET
DOID:3649	pyruvate decarboxylase deficiency Aliases: deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency	ACE CHPT1 DHDDS DLAT DLD ECHS1 OGDH PC PCK1 PCK2 PDHA1 PDHA2 PDHB PDHX	1636 1737 1738 1892 4967 5091 5105 5106 5160 5161 5162 56994 79947 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADH1B CD74 COL9A2 COMT DGCR2 GAS1 GPC6 GSK3B ICAM1 IDH1 IDH2 IL18RAP LDHA LGALS3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIRT2 SIRT6 SRGN SULF1 TIGAR XYLT1	10082 125 1298 1312 176 22933 23213 2619 283871 2932 3383 3417 3418 3939 3958 51548 5290 5291 5293 5294 5552 57103 5728 5743 64131 8807 972 9993	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13139	crescentic glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13417	alexia Aliases: Aphemesthaesia acquired dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	ECHS1 SLC2A1	1892 6513	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090055	dystonia 25	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0050670	ataxic cerebral palsy Aliases: hypotonic cerebral palsy	CEL CYP2E1 NDUFAB1	1056 1571 4706	Homo sapiens (human)	DisGeNET

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