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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 **5526 - 5550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 5973 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14753	isovaleric acidemia Aliases: Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria	PIK3CA PLA2G1B PLB1 PTGES PTGS1 PTGS2	151056 5290 5319 5742 5743 9536	Homo sapiens (human)	DisGeNET
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2660	cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	ADH4 ADH5 ADH7 AKR1A1 CEACAM5 CEACAM7 CHPT1 CYP1B1 CYP2E1 CYP2J2 DHDDS ENO2 GPX1 HPGDS KLRK1 LTA4H LYPD5 MICA PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2	100507436 10327 1048 1087 127 128 131 1545 1571 1573 2026 22914 27306 284348 2876 4048 51196 5130 5290 5291 5293 5294 56994 5728 5743 79947	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	MOGS PMM2 RFT1 SLC35A2 SLC39A8	5373 64116 7355 7841 91869	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:2636	ovarian Brenner tumor Aliases: benign ovarian Brenner tumor benign ovarian Brenner tumour ovarian Brenner tumour	PIK3CA	5290	Homo sapiens (human)	DisGeNET
DOID:13800	inclusion conjunctivitis Aliases: Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea	CALR PTGS2 SMUG1	23583 5743 811	Homo sapiens (human)	DisGeNET
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	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:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090105	autosomal recessive hypercholesterolemia Aliases: ARH ARH1 ARH2 FHCB1 FHCB2 autosomal recessive hypercholesterolemia 1 autosomal recessive hypercholesterolemia 2 familial autosomal recessive hypercholesterolemia	ADH1A ADPRH ADPRS CD14 LPL MPI	124 141 4023 4351 54936 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	ADH1A ADH1B ADH1C	124 125 126	Homo sapiens (human)	DisGeNET
DOID:890	mitochondrial encephalomyopathy	SDHB SUCLA2 SUCLG1 TYMP	1890 6390 8802 8803	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8618	oral cavity cancer Aliases: malignant neoplasm of floor of mouth	ADH1B CYP1A1 CYP2E1 PIK3CA PTEN	125 1543 1571 5290 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1703	Richter's syndrome Aliases: Richter syndrome	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	AKR1C2 AKR1C4 CHST3 CYP11A1 CYP17A1 DHRS11 HSD17B3 HSD17B7 HSD3B2 SRD5A2	1109 1583 1586 1646 3284 3293 51478 6716 79154 9469	Homo sapiens (human)	DisGeNET
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7210	psammomatous 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ABAT ABO ACACA ACADSB ACAT1 ACE ACO1 ACSM1 ACSM3 ACSS2 ADH1B AGPS AGXT AKR1A1 AKR1B1 AKR1C3 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ARSB ARSD ATP6AP2 ATP6V0A2 B3GAT1 BAAT BST1 CACNA2D1 CALR CAT CD14 CD38 CD44 CDH13 CERS5 CHGA CHI3L1 CHPT1 CHST3 CLC CLEC16A CNTN3 CNTN4 CNTN5 COL9A2 COMT CTSA CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DLD DPAGT1 DPEP1 EBP ENO1 ENO3 ENPP1 EPHX2 EXT2 FADS1 FASN FCN3 FIG4 G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GBA1 GCK GGT1 GLA GLCE GLO1 GML GNPDA2 GOLPH3 GPC3 GPI GPX1 GPX3 HJV HMGCS2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 ICAM1 IDH2 IDUA IL18RAP IL1R1 IL1RL1 IMPA1 INPPL1 ISYNA1 KL LCT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPCAT3 LPIN1 LPL LSS LYZ MACROD2 MBL2 MCAT MLYCD MPI MSLN NAMPT NPL OGA OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G15 PLA2G4A PLA2G5 PLA2G7 PLCB3 PLCD1 PLCE1 PLCG1 PLD2 PMM2 PRKAA2 PRNP PRSS8 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RBP4 REG3G RENBP RGN SACM1L SCD SDC1 SDHB SDHC SELE SELL SELP SEMA7A SFTPC SHMT1 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35F3 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMUG1 SORD SPHK1 SPHK2 SRGN ST3GAL4 ST8SIA4 STS SULF2 SULT1E1 TBXAS1 TM7SF2 UGCG UGT1A1 UMOD VCAM1 VNN1 XYLT1 XYLT2	1012 10135 10159 10162 10232 10327 10559 10682 10724 10855 1109 1113 1116 116285 1178 120227 125 1298 130120 1312 132789 140733 142 148641 148738 152330 1543 1544 1545 1555 1557 1558 1559 1573 1576 1577 1579 1581 1583 1584 1585 1586 1588 1589 1591 1594 1605 1634 1636 1727 1738 1798 18 1800 189 2023 2027 2053 2132 217 2194 22908 22933 231 23175 23274 23417 23545 23583 23600 23659 239 240 247 2538 2539 2542 2572 2590 26035 2629 2645 26503 2678 27087 2717 2719 27306 27349 2739 276 2765 277 278 28 2821 283871 2876 2878 308 31 3158 3283 3284 3290 3291 3295 3383 3418 3425 353 3554 36 3612 3636 38 3938 3956 3957 3958 3988 3990 3992 4023 4047 4051 4069 410 411 412 414 4153 4351 48 4968 4973 501 5067 5091 51196 5130 51477 51548 5167 5209 5290 5291 5293 5294 5310 5311 5315 5321 5322 5331 5333 5335 5338 5373 53942 54658 5476 5552 5563 55902 55959 5621 5652 56848 56994 570 5728 5730 5740 5742 5743 5950 5973 60495 6296 6319 6382 6390 6391 6401 6402 6403 64083 64116 64131 64132 6440 6470 6484 6514 6515 6517 6518 6519 6523 6652 6783 683 6916 7108 7357 7369 7412 781 7903 7941 80142 80896 81031 811 847 8482 8529 8540 8547 8560 8644 8807 8876 8877 91012 9104 9173 9197 929 9365 9388 9469 9514 952 9536 960 9896	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2 Aliases: AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	AKR1C3 CS HPSE NEU1 OPCML PTEN SLC2A3 SLC2A4 TMTC3	10855 1431 160418 4758 4978 5728 6515 6517 8644	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:171	neuroectodermal tumor Aliases: primitive Neuroectodermal neoplasm	ABO AMACR ASAH1 B3GAT1 CD38 CEACAM5 CHGA ENO2 GAPDH HMMR HPGDS MELTF MRC1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1048 1113 2026 23600 2597 27036 27087 27306 28 283871 3161 4241 427 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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