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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 **1226 - 1250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:11252	microcytic anemia	ACO1 BDH2 CACNA2D3 CAT CD55 HJV IDUA LALBA LPIN2 PLA2G4A PLA2G6 SMPD1 SRD5A3	148738 1604 3425 3906 48 5321 55799 56898 6609 79644 8398 847 9663	Homo sapiens (human)
DOID:0110155	Charcot-Marie-Tooth disease type 2A2A Aliases: CMT2A2A Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CTSA	5476	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:5032	pineal gland cancer Aliases: Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region	CHGA ENO2	1113 2026	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:4588	secretory 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:3449	penis carcinoma Aliases: Penile carcinoma carcinoma of penis	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 4360 5290 5291 5293 5294	Homo sapiens (human)
DOID:5695	childhood liposarcoma Aliases: pediatric liposarcoma	CPM FASN GPNMB PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PTEN SDC1 SMUG1 STS	10457 1368 2194 23583 412 5290 5291 5293 5294 57104 5728 6382 80339	Homo sapiens (human)
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)
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:1227	neutropenia	ABO ACE AGA ALDH2 B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNF TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 217 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7124 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	ABO ACACA ACAN ACAT1 ACE ACHE ACLY ACOX2 ACSM3 ACSS2 ADH1B ADH1C ADIPOQ AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG9 ALOX12 ALOX5 ALPP AMACR ANXA5 ANXA7 APRT ARSA ARSD ARSI ATP6AP2 ATRNL1 C1GALT1 CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CERS2 CFC1 CHI3L1 CHST3 COG2 COL9A2 COMT CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A5 CYP4F2 CYP4F3 CYP7A1 DBT DCN DEGS1 DGKE DHCR7 DPEP1 DSE EFNA5 ENO1 ENPP1 EPHX2 FADS1 FADS2 FCGR3B FDFT1 FREM1 FUT2 G6PD GAD1 GAL3ST1 GALNS GCK GGT1 GHRL GLA GLUL GML GNPDA2 GPC6 GPIHBP1 GPX1 GPX3 GYS1 H6PD HADHB HPGDS HPSE HSD11B1 HSD11B2 HSD17B12 ICAM1 IDH2 IGF2R IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 IMPA1 INPP5K KHK KL LCAT LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S MACROD1 MASP1 MBL2 MBOAT7 MGAM MGAT1 MGLL MICA MPI MRC1 NAAA NAGLU NAMPT NT5E OGA OGG1 OGT OLR1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCE1 PLPP3 PMM2 PNPLA2 PNPLA3 PPARGC1A PRKAA2 PTGDS PTGIS PTGS1 PTGS2 RENBP RPE SCD SELE SELP SFTPA1 SFTPA2 SFTPD SHMT1 SI SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A4 SLC33A1 SLC35A1 SLC35E3 SLC5A1 SMUG1 SOAT1 SPHK2 SULT1E1 TBXAS1 TECR TM7SF2 TYMP UGT1A1 UGT1A6 UGT2B7 UMOD VCAM1 VCAN VNN1	100507436 10082 1012 10135 10159 10327 1048 10559 10724 10855 10891 11141 1116 11343 125 126 1298 1312 132789 142 1462 151056 1543 1544 1545 1555 1557 1559 1571 1573 1577 1581 158326 1584 1585 1588 1593 1629 1634 1636 1717 176 1800 1890 1946 2023 2053 217 2215 2222 22796 22933 231 23175 23236 23583 23600 23659 239 240 250 2524 2539 2571 2588 26033 2645 26503 2678 27163 2717 27306 2752 2765 28 2876 2878 28992 29940 29956 2997 3032 308 31 310 3290 3291 3383 338328 340075 3418 3482 353 3554 3612 3795 38 3931 3956 3957 3958 3988 3990 3992 4023 4048 4051 4056 410 414 4153 4245 43 4351 4360 4669 47 4907 4968 4973 501 5091 51144 51196 51548 5167 51738 51763 5290 5291 5293 5294 5319 5320 5321 5329 5373 54578 54658 55508 5563 55902 55997 5648 56848 56913 57104 5730 5740 5742 5743 5973 6120 6296 6319 6401 6403 6441 6470 6476 6514 6517 6523 653509 6646 6783 6916 7108 729238 7364 7369 7412 79143 7941 79796 80339 811 8309 8398 8399 847 8473 8526 8529 8560 8613 8807 8809 8876 8972 9173 9197 929 9365 9370 9388 9415 9469 9514 952 9524 9563 960 972	Homo sapiens (human)
DOID:0110502	autosomal recessive nonsyndromic deafness 45 Aliases: DFNB45 autosomal recessive deafness 45	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)
DOID:0060732	chromosome 9p deletion syndrome Aliases: 9p syndrome Alfi syndrome monosomy 9p syndrome	AMT CYP11A1 FREM1 GLDC PAFAH1B1 PRNP	1583 158326 2731 275 5048 5621	Homo sapiens (human)
DOID:10780	primary polycythemia Aliases: Familiar Polycythemia familial erythrocytosis	ACE CD177 FCER2 PKLR SLC17A5	1636 2208 26503 5313 57126	Homo sapiens (human)
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	ACSBG1 B3GAT1 FUT1 HADHA NAAA NCAM1 SMUG1	23205 23583 2523 27087 27163 3030 4684	Homo sapiens (human)
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	CTSA	5476	Homo sapiens (human)
DOID:0090050	dystonia 27	ALDH5A1	7915	Homo sapiens (human)

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