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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 **3876 - 3900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)
DOID:2481	obsolete infantile epileptic encephalopathy	ABAT ALDH7A1 ALG13 ALG2 ALG3 AMT ATP6V1A B3GALNT2 CACNA2D1 CYP2C19 DHDDS EPM2A GAPDH GCK GLYCTK HIBCH HMGCL HSD17B4 LMAN2L MAN1B1 MBOAT7 NDST1 NGLY1 PAFAH1B1 PDHA1 PGAP1 PIGA PIGC PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 ST3GAL3 SYNJ1 TECR TUSC3	10195 11253 132158 148789 1557 18 23236 2597 26275 2645 275 284098 3155 3295 3340 501 5048 51227 5160 523 5277 5279 5373 55768 64116 6487 7355 781 79143 7957 79644 79868 7991 79947 80055 81562 85365 8867 9091 91869 9524	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	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)
DOID:7213	transitional meningioma Aliases: transitional (mixed) meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ACAT2 ACSL6 B4GALNT1 BCKDHB CD38 COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GALT HACD1 HSD17B3 HSD17B4 IGF2R KL LGALS1 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN XPNPEP2	120227 1312 142 1497 1555 1557 1581 1582 1588 23305 2583 2592 3293 3295 3482 39 3956 5226 5290 5291 5293 5294 5321 5373 5728 594 7512 84649 9200 92579 9365 952	Homo sapiens (human)
DOID:3451	skin carcinoma Aliases: carcinoma of skin	CYP1A1 CYP27A1 CYP27B1 HPGDS HSD11B2 INPP5K MICA MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 1543 1593 1594 27306 3291 4360 51763 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:0090122	aromatase excess syndrome Aliases: AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity	ACACA AGPAT2 CD44 CFC1 CYP11B1 CYP19A1 CYP21A2 CYP2B6 H6PD IDH1 IDH2 PIGP PIGQ PTEN PTGS2 SLC35A2	10555 1555 1584 1588 1589 31 3417 3418 51227 55997 5728 5743 7355 9091 9563 960	Homo sapiens (human)
DOID:0060391	chromosome 13q14 deletion syndrome Aliases: deletion 13q14	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0110459	dilated cardiomyopathy 1FF Aliases: CMD1FF	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)
DOID:6376	hypersplenism Aliases: hypersplenia	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:2710	sick building syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABO ACAT1 ACE ACHE ADH1A ADH1B ADH1C ADH4 ADH5 ADIPOQ AGA AGL AKR1A1 AKR1B10 AKR1B1 ALDH1B1 ALDH2 ALDH7A1 ALDOB ALOX5 ALPI ALPP ANXA5 APRT ARSH ATRNL1 CALR CAT CBR1 CD14 CD1D CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS6 CHI3L1 CHIT1 CHST3 CLEC7A CMAS CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A7 CYP4A11 CYP4F3 DCN DDOST DGKE DHCR7 DHDDS DLAT ENO1 ENPP2 EXTL3 FADS1 FCGR3B FCN2 FDFT1 FMOD FUT1 GALT GBA1 GCDH GCK GCLC GGT1 GLB1 GLO1 GLT8D2 GLUL GNPAT GOLPH3 GPAA1 GPC3 GPD1 GPNMB GPX1 HACD1 HAS2 HEXB HK2 HMGCS2 HPGDS HPSE HSD11B2 HSPG2 ICAM1 IDH1 IGF2 IGF2R IL1R1 INPP5D INPP5E ISYNA1 KL LALBA LDHA LGALS1 LGALS3 LGALS8 LGALS9 LIPA MASP1 MBL2 MBOAT7 MICA MLYCD MPI MSLN MTAP NAAA NAGLU NAMPT NANS NCAM1 NCAN NDST1 NT5E OGA OGT PARP1 PC PDIA3 PEMT PHKG2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PMM2 PNPLA3 PNPLA6 PRKAA2 PSMD10 PTEN PTGDS PTGIS PTGS2 RBP4 RENBP RGN SCD SDC1 SDC2 SDC4 SFTPA1 SIGLEC1 SIRT2 SLC17A5 SLC27A5 SLC2A4 SLC33A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST8SIA4 STS SULF1 TALDO1 TBXAS1 TLR4 TM7SF2 TNF TYMP UGT1A1 UGT1A7 UMOD VCAM1	100507436 1012 10135 10232 10327 10400 10457 1048 10724 10855 1087 10908 10998 1116 1118 120227 124 125 126 127 128 1374 1376 142 1463 151056 1543 1544 1551 1555 1557 1571 1576 1579 1586 1588 1593 1594 1634 1636 1650 1717 1737 175 178 1890 2023 2137 217 219 2215 2220 2222 229 22933 231 23213 2331 23417 23583 240 248 250 2523 253782 2592 26033 2629 2639 2645 26503 2678 27163 2719 2720 2729 27306 2739 2752 28 2819 2876 2923 3037 3074 308 3099 3158 3291 3339 3340 3383 3417 347527 3481 3482 353 3554 3635 38 3906 3939 3956 3958 3964 3965 3988 3992 4051 412 4153 43 4351 4507 4669 4684 4907 501 5091 51477 5168 5261 5290 5291 5293 5294 5315 5319 5320 5321 5329 5373 54187 54577 54658 5563 55907 5648 56623 56848 57016 57124 5716 5728 5730 5740 5743 5950 5973 6319 6382 6383 6385 64083 64581 6480 6517 653509 6609 6614 6646 6888 6916 7099 7108 7124 7369 7412 7903 79143 79947 80339 811 83468 8398 8443 847 8473 8526 873 8733 8877 9104 912 9197 9200 929 9365 9370 9469 952 960 972	Homo sapiens (human)
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:0110232	cataract 29 Aliases: cataract 29 coralliform	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)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:9534	tuberculous pneumothorax	ACACA ACE ACOT7 ALOX5 CD14 CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TM7SF2	1012 1056 10998 11332 1571 1636 2026 2215 2220 23583 240 26253 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 50863 5648 6401 6402 64116 653509 6614 6646 7108 729238 83666 929 960	Homo sapiens (human)
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)

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