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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 **5976 - 6000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	ABO ACE ALDH1A3 ANXA5 APRT CAT CD44 CEACAM5 CEACAM6 CEACAM7 CNTN4 CYP17A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP39A1 CYP7A1 CYP7B1 FKTN GALNT3 GCNT2 GGT1 GPC1 GPC3 GPX3 HK2 HPGDS HPSE HSD17B7 HSPG2 IDH1 ISYNA1 LDHA MPG NT5E OGG1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLCE1 PSAP PTEN PTGS2 SDC1 SDC2 SMUG1 SPHK1 ST8SIA4 SULT2B1 TYMP	1048 10855 1087 152330 1543 1545 1555 1581 1586 1593 1636 1890 220 2218 23583 2591 2651 2678 2719 27306 28 2817 2878 308 3099 3339 3417 353 3939 4350 4680 4907 4968 5091 51196 51302 51477 51478 5230 5290 5291 5293 5294 5313 5315 5660 5728 5743 6382 6383 6820 7903 847 8877 9420 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)	DisGeNET
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4291	fibroepithelial basal cell carcinoma Aliases: Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor	BAAT	570	Homo sapiens (human)	DisGeNET
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SOAT1 VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 3820 4153 5167 5743 6646 729238 929 9365 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	PIK3CA PTEN	5290 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 L2HGDH MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PNPLA7 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 375775 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 79944 8398 847 9254 9374 9420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)	DisGeNET
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD	10855 1113 1312 142 1431 152330 1636 1743 2271 23583 2539 2990 31 3417 3418 353 3897 3958 4191 48 51478 5290 5291 5293 5294 5311 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4337	tinea capitis Aliases: Scalp ringworm Trichophyton rubrum tinea capitis dermatophytosis of scalp or beard tinea capitis due to Trichophyton rubrum	LGALS4	3960	Homo sapiens (human)	DisGeNET
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	CD44 CD72 CLEC1B HPSE MBD4 MRC1 NCAM1 PTEN PTGS1 SELP	10855 4360 4684 51266 5728 5742 6403 8930 960 971	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12603	acute leukemia Aliases: Stem cell Leukemia Stem cell leukaemia	ABO ACE ALOX15 CALR CD14 CD22 CD33 CD38 CD55 CD93 CLEC12A COLEC10 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 FUT4 HACD1 HPGDS HPRT1 HPSE2 IDH1 IDH2 IDUA IL1RL1 INPP5D KLRK1 LGALS1 NAAA NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 SELE SIGLEC7 SMUG1 SOAT1 STS UNG VCAN XYLT2	10584 142 1462 1543 1555 1576 1577 160364 1604 1636 22914 22918 22925 23583 246 2526 27036 27163 27306 28 3251 3417 3418 3425 3635 3956 412 4684 4968 51084 5290 5291 5293 5294 60495 6401 64132 6646 7374 811 9173 9200 929 933 945 9487 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)	DisGeNET
DOID:12337	varicocele Aliases: Scrotal varices	CAT CHPT1 DHDDS FASN HPGDS LYPD5 MGLL OGG1 PIK3CA PTEN	11343 2194 27306 284348 4968 5290 56994 5728 79947 847	Homo sapiens (human)	DisGeNET
DOID:0050590	severe congenital neutropenia	ABO ACE AGA B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5890	malignant adult ependymoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:10554	meningoencephalitis	ACE ARSA B3GAT1 CAT CD55 COMT CYP7B1 DEGS1 ENO2 FUCA1 GPX1 HADHB IGF2R MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1312 1604 1636 2026 22934 2517 27087 2876 3032 3482 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1731	histoplasmosis	ABO ATP6V1A CAT CD14 CD209 CEL CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1056 1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5166	endometrial stromal tumor Aliases: endometrial Stromal neoplasm	CYP19A1	1588	Homo sapiens (human)	DisGeNET
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11126	acquired thrombocytopenia Aliases: secondary thrombocytopenia	CRYL1	51084	Homo sapiens (human)	DisGeNET
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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