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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 **4026 - 4050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:8719	in situ carcinoma	AKT1 ALOX5 ALPL CD33 CD44 HPSE HSPG2 IGF2R LDHB MMP25 MMUT MRC1 PDHX PIK3CA PKM PLD2 PTEN PTGES PTGS2 SDHB STS	10855 207 240 249 3339 3482 3945 412 4360 4594 5290 5315 5338 5728 5743 6390 64386 8050 945 9536 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	ACE ACSL5 BAAT CAT CD38 CD44 CD74 CDH13 CEACAM5 CHKA CLEC4G COLEC10 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2R1 DCN FASN GALNT14 GAPDH GPC3 HAS1 HAS3 HPGDS HPSE HSD17B7 HYAL3 ICAM1 KLRK1 LGALS1 LGALS3 LYPD5 MICA MMUT MRC1 NAMPT NCAM1 NEIL3 NEU1 NT5E NTHL1 OGG1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD2 PPT1 PRKAA2 PTEN PTGS1 PTGS2 RGMA SC5D SCD SDC1 SIRT2 SIRT6 SMUG1 SOAT1 TEX101 TNKS2 TP53 TYMP UMPS	100507436 1012 10135 1048 10584 10855 1119 120227 1543 1545 1555 1588 1591 1593 1594 1634 1636 1890 2194 22914 22933 23583 2597 2719 27306 283871 284348 3036 3038 3383 339390 3956 3958 4360 4594 4684 4758 4907 4913 4968 51478 51548 51703 5290 5291 5293 5294 5329 5338 55247 5538 5563 56963 570 5728 5742 5743 6309 6319 6382 6646 7157 7372 79623 80351 83639 8372 847 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:10930	borderline personality disorder	ACE CACNA2D4 COMT DBT DGKH ETNPPL FADS1 G6PD GAD1 GAD2 GPC1 IMPA2 LDHA LMAN2L MCAT MPPE1 PLCG1 SYNJ1	1312 160851 1629 1636 2539 2571 2572 27349 2817 3613 3939 3992 5335 64850 65258 81562 8867 93589	Homo sapiens (human)	DisGeNET
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	ACE APRT CACNA2D4 COMT DBT DGKH ETNPPL FADS1 G6PD GAD1 GAD2 GPC1 IMPA2 LDHA LMAN2L MCAT MPPE1 PAFAH1B1 PLCD1 PLCG1 SYNJ1	1312 160851 1629 1636 2539 2571 2572 27349 2817 353 3613 3939 3992 5048 5333 5335 64850 65258 81562 8867 93589	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080011	bone resorption disease	CYP19A1	1588	Homo sapiens (human)	DisGeNET
DOID:184	bone cancer Aliases: CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor	ACE ALPP ATRNL1 CD38 CDH13 CYP1A1 DPEP1 EXT1 EXT2 FASN HPGDS ICAM1 IDH1 IDH2 MGLL MTAP NANS PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC2 SMC3 SMUG1	1012 11343 1543 1636 1800 2131 2132 2194 23583 250 26033 27306 3383 3417 3418 4507 5290 5291 5293 5294 54187 5743 6383 9126 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)	DisGeNET
DOID:0080001	bone disease	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SELE SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 4907 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6401 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)	DisGeNET
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	ACHE HPSE KDSR PLA2G4A	10855 2531 43 5321	Homo sapiens (human)	DisGeNET
DOID:4176	blood group incompatibility	ABO G6PD	2539 28	Homo sapiens (human)	DisGeNET
DOID:2214	obsolete inherited blood coagulation disease	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 CYP7B1 DDOST ENO1 ENPP2 GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP	10855 11332 151056 1650 2023 229 23600 25839 27163 3958 3998 410 4351 5091 51266 5168 5290 5321 570 5742 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)	DisGeNET
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 COG6 CYP7B1 DDOST ENO1 ENPP2 G6PC1 GALT GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIGA PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP TMTC3	10855 11332 151056 160418 1650 2023 229 23600 2538 25839 2592 27163 3958 3998 410 4351 5091 51266 5168 5277 5290 5321 570 5742 57511 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)	DisGeNET
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060261	congenital ptosis	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)	DisGeNET
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)	DisGeNET
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)	DisGeNET
DOID:9423	blepharitis	MSMO1 PIGN PLCD1 SMC3	23556 5333 6307 9126	Homo sapiens (human)	DisGeNET
DOID:11577	Cauda equina syndrome	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)	DisGeNET
DOID:12143	neurogenic bladder Aliases: Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder	ACER3 ALG1 CD38 COG5 COG7 ELOVL1 GBE1	10466 2632 55331 56052 64834 91949 952	Homo sapiens (human)	DisGeNET

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