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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 **2951 - 2975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:467	venous hemangioma	LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG TM7SF2	3958 5290 5291 5293 5294 7108	Homo sapiens (human)	DisGeNET
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ACACA ACSL4 AGA ALDH2 ALG13 APRT ARSD ATP6V1A B4GALT2 CD38 CDH13 CHPT1 CNTFR CNTN1 CNTN5 CNTN6 COMT CPT2 CYP2B6 CYP3A4 CYP4F3 DGKH DHDDS FADS1 FADS2 GAD1 GNE GNPAT GPC6 HK1 HPRT1 HSPG2 IL1RAPL1 LGALS3 LMAN2L MAN2A2 MANBA MBOAT7 NANS NCAM1 NCAN NTM OCRL PC PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGDS SCD SDHA SDHD SLC2A3 SLC39A8 SMC3 SMPD1 SMUG1 ST3GAL3 STS STT3A SYNJ1 THEM4 UST	10020 10082 10090 1012 11141 117145 1271 1272 1312 1376 1463 1555 1576 160851 175 217 2182 23583 2571 27255 3098 31 3251 3339 353 3703 3958 3992 4051 412 4122 4126 414 4684 4952 50863 5091 523 5290 5291 5293 5294 53942 54187 55300 5621 56994 5728 5730 6319 6389 6392 64116 6487 6515 6609 79143 79868 79947 81562 8443 8704 8867 9126 9415 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2712	phimosis Aliases: Tight foreskin Tight frenulum	CYP1A1 CYP1B1 CYP27B1 SRD5A2	1543 1545 1594 6716	Homo sapiens (human)	DisGeNET
DOID:302	substance abuse	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GBA1 PI4KA	2629 5297	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ACE ACHE ACLY ACSS2 ADH5 AKR1B10 ARSA CACNA2D1 CALR CAT CYP46A1 ELOVL4 ELOVL5 ENO2 G6PD GAD2 GBA1 GPC5 HK2 HMGCL HPGDS HPSE HSD11B2 ICAM1 LGALS3 LIPA LTC4S MASP2 MBL2 MGLL NCAM1 NT5E PIK3CA PIK3CD PIK3CG PLA2G15 PLA2R1 PLB1 PTGS1 PTGS2 SCD SDC1 SELE SLC2A10 TM7SF2 TNF UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	10747 10855 10858 11343 128 151056 1636 2026 2262 22925 23659 2539 2572 2629 27306 3099 3155 3291 3383 3958 3988 4056 410 4153 43 4684 47 4907 5290 5293 5294 54575 54576 54577 54578 54657 54658 55902 57016 5742 5743 60481 6319 6382 6401 6785 7108 7124 7357 781 81031 811 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)	DisGeNET
DOID:0110554	autosomal dominant nonsyndromic deafness 24 Aliases: DFNA24 autosomal dominant deafness 24	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:11168	anogenital venereal wart Aliases: Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart	FCN3 G6PD GLB1 IDUA KLRK1 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 STS TLR2 TLR4 TNF	22914 2539 2720 3425 412 4153 5290 5291 5293 5294 57104 7097 7099 7124 8547	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	ACHE AKR1B1 CDS1 CHI3L1 FCGR3B FCN2 FOLR2 GALNT2 ICAM1 IL1RL1 KLRK1 MBD4 MBL2 MICA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLCE1 PTEN PTGS2 SELE SHMT1 SMUG1 TLR4 VCAM1	100507436 1040 1116 2215 2220 22914 231 2350 23583 2590 3383 4153 43 51196 5289 5290 5291 5293 5294 5319 5320 5728 5743 6401 6470 7099 7412 8398 8930 9173	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:0050933	ovarian serous carcinoma	NCAM1 PTEN	4684 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RBP4	1119 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	CAT ELOVL5 HPGDS PLB1 SDHC	151056 27306 60481 6391 847	Homo sapiens (human)	DisGeNET
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11771	spontaneous ocular nystagmus Aliases: Ocular nystagmus Searching eye movements visual deprivation nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	CACNA2D2	9254	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	ACE ALDH2 ATP6AP2 CYP2E1 GAPDH	10159 1571 1636 217 2597	Homo sapiens (human)	DisGeNET
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110238	cataract 18 Aliases: CATC2 CTRCT18 autosomal recessive congenital cataract 2 cataract 18 autosomal recessive	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	CHI3L1	1116	Homo sapiens (human)	DisGeNET
DOID:0060478	Zika fever Aliases: Zika virus disease	ALDH5A1 B3GAT1 CAT CD14 CD48 CH25H FCGR3B GAPDH GNE ISYNA1 MOGS PARP12 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG RPE SELP SMPD3 SOAT1	10020 142 2215 2597 27087 2923 51477 5290 5291 5293 5294 55512 6120 6403 64761 6646 7841 7915 847 9023 929 962	Homo sapiens (human)	DisGeNET
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET

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