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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 **4301 - 4325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	ACE ARSD CFC1 CLEC1B DHCR7 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG	1636 1717 414 51266 5130 5290 5291 5293 5294 55997	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABO ACE ACHE ACO2 ADRB3 AKR1B10 ANXA5 APRT ARSB ASAH1 ASAH2 CALR CAT CD14 CD1D CEACAM5 CEACAM6 CEL CHI3L1 CHIT1 CLEC6A CLEC7A CYP1A1 CYP1A2 CYP2C19 CYP3A4 DCN EBP EDEM1 EFNA5 ENPP7 FCGR3B FCN1 FUT1 FUT2 FUT3 FUT4 GBA2 GBA3 GCLC GLB1 GPNMB GUSB HEXA HPGDS HSD11B2 HSPG2 ICAM1 INPP5D ISYNA1 LCT LEP LPCAT1 MASP1 MASP2 MBL2 MGAM MOGS MPI PARP3 PARP9 PCK1 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLB1 PLCB3 PLCD1 PLCZ1 PPARA PRKAA2 PRNP PRSS8 PTEN PTGES3 PTGS2 RECK RGMA SELP SFTPA1 SFTPA2 SFTPC SFTPD SI SIRT2 SLC27A5 SMPD1 SPHK2 STS SULT1E1 SUMF1 TLR4 TNF UGT1A1 VCAM1	10039 10457 1048 1056 10682 10728 10747 10998 1116 1118 151056 1543 1544 155 1557 1576 1634 1636 1946 2215 2219 22933 2523 2524 2525 2526 2720 2729 27306 28 285362 2990 3073 308 3291 3339 3383 339221 353 3635 3938 3952 411 412 4153 427 43 4351 4680 50 5105 51477 5226 5238 5290 5291 5293 5294 5310 5315 5320 5321 5331 5333 5465 54658 5563 5621 5648 5652 56624 56848 56963 57016 5728 5743 57704 57733 6403 6440 6441 64581 6476 653509 6609 6783 7099 7124 729238 7412 7841 79888 811 83666 8434 847 8972 89869 912 929 93978 9695	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 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 G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)	DisGeNET
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	ACE ALDH7A1 ALOX12 ALPP APRT ATRNL1 DAG1 FKRP GAA GK LARGE1 RGN	1605 1636 239 250 2548 26033 2710 353 501 79147 9104 9215	Homo sapiens (human)	DisGeNET
DOID:0110114	atrial heart septal defect 9 Aliases: ASD9 atrial septal defect 9	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:12144	low compliance bladder Aliases: Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder	HSPG2 ICAM1	3339 3383	Homo sapiens (human)	DisGeNET
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)	DisGeNET Alliance of Genome Resources
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6	1312 1555	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	ACSS2 AGA AGPAT2 ARSB ATP6V0A2 B3GLCT CHST14 COLEC10 COLEC11 COMT FREM1 GNPTAB GPC3 GPC6 GUSB IDS LFNG MASP1 NSDHL OCRL PAFAH1B1 PIGN PIGP PIGQ PIGS PLA2G15 SLC26A2 SLC2A10 TGDS	10082 10555 10584 113189 1312 145173 158326 175 1836 23483 23545 23556 23659 2719 2990 3423 3955 411 4952 5048 50814 51227 55902 5648 78989 79158 81031 9091 94005	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080161	cutaneous candidiasis	PSAP	5660	Homo sapiens (human)	DisGeNET
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	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)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060407	chromosome 18q deletion syndrome Aliases: 18q- syndrome deletion 18q monosomy 18q	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13328	diabetic cataract Aliases: Cataract - diabetic	ACE AKR1A1 AKR1B10 AKR1B1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GALK1 GALT GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PRKAA2 PRNP PTEN PTGS2 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TM7SF2 UMOD UPP1 VCAM1	1012 10159 10327 142 1636 217 231 23409 23545 2517 2571 2572 2584 2592 2597 2645 266722 2678 2739 2752 3099 3383 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7108 7369 7378 7412 7903 7941 847 8473 8704 929 9388 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7173	cloacogenic carcinoma Aliases: Cloacogenic anal carcinoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	DGKE PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5238 5290 5291 5293 5294 5728 8526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110817	hereditary spastic paraplegia 72A Aliases: SPG72 autosomal spastic paraplegia type 72	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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