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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1876 - 1900** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)
DOID:14402	critical illness polyneuropathy	ACE AGRN ARSA B3GAT1 CAT CD55 CHAT COMT CYP7B1 DEGS1 FUCA1 GPX1 HADHB MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1103 1312 1604 1636 22934 2517 27087 2876 3032 375790 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:14400	capillary leak syndrome	CD22 ICAM1	3383 933	Homo sapiens (human)
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)
DOID:14336	estrogen excess Aliases: hyperestrogenism	CYP19A1	1588	Homo sapiens (human)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKT1 AKT2 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GALT4 B3GAT1 B4GALNT1 BST1 CALR3 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B FH G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2 IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LEP LGALS1 LGALS3 LGALS4 LYPD5 MAG MAPK14 MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E NTM OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGK2 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PPARGC1A PRKAA1 PRKAA2 PRNP PSAP PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RENBP RGMA RTN4R SARM1 SCD SDHA SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST3GAL2 ST8SIA4 STBD1 SUCLA2 SYNJ1 SYNJ2 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10891 10908 1103 1116 1118 11332 11343 119391 125 125972 126 127 1272 131 1312 132789 142 1432 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 207 208 217 2194 2203 2208 2215 2271 22876 22933 23098 23205 23583 23761 2539 2571 2572 2581 2583 2588 2597 26232 2629 26503 2673 27036 27087 2717 2720 27306 27349 2752 2821 283871 284348 2876 2923 2932 3037 3073 308 3098 3099 31 3383 3425 3481 3482 353 3897 3952 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 50863 51477 51478 5160 51763 5230 5232 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5562 5563 5621 5660 56963 57103 5728 5730 5740 5743 57704 5973 6319 6389 64116 64132 6470 6472 6476 6483 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8705 8803 8867 8871 8987 9197 929 9365 9446 952 9536 960	Homo sapiens (human)
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SRD5A3 SULT1E1 TECR TGDS TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6470 6519 6614 6718 6783 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:14320	generalized anxiety disorder	ACACA ACE ACHE ACSL4 ADH1B AKR1C1 AKR1C3 ALDH2 ALDH5A1 ALOX15 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSG ARSI B3GAT1 CAT CHGA CNTN3 COMT CPM CYP17A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS FIG4 GAD1 GAD2 GALNS GCK GLA GLO1 GLT8D1 GM2A GOLPH3 GPNMB HPSE HS6ST1 HSD11B2 HSPG2 INPP5K LGALS3 LIPA LYPD6 MGLL MPI NANS NDST3 NT5E OCRL PAFAH1B1 PARP1 PC PCCB PCYT1A PIK3CA PMM2 PRNP PTEN PTGS2 SDHD SIRT6 SLC33A1 SLC35C1 SMC3 SMPD1 SMUG1 SPHK1 SRD5A1 STS TMED9 UGT2B15 UMOD	10457 10855 1113 11343 125 130574 1312 1368 142 1543 1544 1555 1557 1571 1586 1636 1645 2023 217 2182 2224 22901 23583 246 249 2571 2572 2588 2645 27087 2717 2739 276 2760 277 278 31 3291 3339 340075 3958 3988 410 412 414 43 4351 4907 4952 5048 5067 5091 5096 5130 51548 51763 5290 5373 54187 54732 55343 55830 5621 5728 5743 6392 64083 6609 6715 7366 7369 7915 847 8644 8877 9126 9197 9348 9394 9896	Homo sapiens (human)
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	ALG13 ALG2 AMACR ARSG B3GALNT2 B3GLCT B4GAT1 CA4 CACNA2D4 CD109 CLC CLN5 CYP1B1 CYP2U1 DHDDS EFNA5 ELOVL4 ENPP1 EPHX2 EPM2A FASN FH FKRP FKTN GALC GM2A GMPPA GMPPB GPAA1 HADHA HEXA HEXB HGSNAT HK1 HS6ST1 HSD17B4 HSPG2 IDH3A IDH3B IDUA INPP5E LARGE1 LCAT LSS MASP1 MECR MPDU1 MPI OCRL PCYT1A PGK1 PIGT PLA2G6 PMM2 PNPLA6 PNPLA7 POMGNT1 POMK POMT1 POMT2 PPT1 PRNP PRPS1 RFT1 RPE SDHA SDHB SDHD SMUG1 SRD5A3 ST3GAL5 SUCLA2 SUMF1 SYNJ1 VCAN XYLT2	10585 10908 11041 113612 1178 1203 135228 138050 145173 1462 148789 1545 1946 2053 2194 2218 2271 22901 23583 23600 2581 2760 285362 29925 29926 29954 3030 3073 3074 3098 3295 3339 3419 3420 3425 375775 3931 4047 4351 4952 51102 5130 51604 5167 5230 5373 5538 55624 5621 5631 5648 56623 6120 6389 6390 6392 64132 6785 762 79147 7957 79644 79868 79947 8398 84197 85365 8733 8803 8867 8869 91869 9215 93589 9394 9526	Homo sapiens (human)
DOID:14308	skin epithelioid hemangioma Aliases: Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin	LGALS9 SMUG1	23583 3965	Homo sapiens (human)
DOID:14292	vulvar dystrophy Aliases: Dystrophy of vulva	DCN IDH1 IDH2	1634 3417 3418	Homo sapiens (human)
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)
DOID:1428	endocrine pancreas disease	GCK PDHX	2645 8050	Homo sapiens (human)
DOID:14271	acute cholangitis	CAT	847	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:14269	suppurative 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:14268	sclerosing cholangitis Aliases: fibrosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 79661 80339 8399 8809 929 9536	Homo sapiens (human)
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)
DOID:14262	oral candidiasis Aliases: Candidiasis of mouth Oral moniliasis Thrush, oral thrush	ADH1A AKR1A1 CLEC7A CYP51A1 FUT2 INPP5D LGALS3 LYZ MBL2 PLB1 PLCG1 PLCG2 PLD1 PSAP SRGN	10327 124 151056 1595 2524 3635 3958 4069 4153 5335 5336 5337 5552 5660 64581	Homo sapiens (human)
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	CLEC7A GCK ICAM1 SELL SMUG1	23583 2645 3383 6402 64581	Homo sapiens (human)

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