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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 **4276 - 4300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060490	Schimke immuno-osseous dysplasia Aliases: Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome	AKR1B10 CHPT1 GM2A HEXB	2760 3074 56994 57016	Homo sapiens (human)	DisGeNET
DOID:0060422	chromosome 6pter-p24 deletion syndrome Aliases: 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5157	benign pleural mesothelioma Aliases: Mesothelioma of Pleura	BST1 MTAP	4507 683	Homo sapiens (human)	DisGeNET
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	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:10816	duodenum adenocarcinoma Aliases: Duodenal adenocarcinoma	CD44 NTHL1	4913 960	Homo sapiens (human)	DisGeNET
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	ACSS2 ADH1B ADH1C ADH7 AKR1A1 ALDH2 ALOX15B ALOX5 APRT ASAH1 BST2 C1GALT1 CALR CD44 CEACAM5 CEACAM6 CEACAM7 CYP1A1 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2R1 ENO1 EXTL3 FASN FUCA1 GALC GALNS GGT1 GLB1 GPX1 GPX3 GUSB HK2 HPGDS HPSE HYAL1 ICAM5 IGF2R LDHA LGALS1 MICA MINPP1 MMP17 MRC1 MUTYH NANS NT5E OGG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLAUR PPP1R3B PPP1R3C PTEN PTGIS PTGS1 PTGS2 REG3G SCD SDHB SDHC SHMT1 SMUG1 SOAT1 SULT1E1 TPI1 UGCG UGT1A1 UGT1A6 UGT1A7	100507436 10327 1048 10855 1087 120227 125 126 130120 131 142 1543 1545 1555 1557 1559 1571 2023 2137 217 2194 23583 23659 240 247 2517 2581 2588 2678 2720 27306 2876 2878 2990 3099 3373 3482 353 3939 3956 427 4326 4360 4595 4680 4907 4968 5130 5290 5291 5293 5294 5315 5329 54187 54577 54578 54658 5507 55902 56913 5728 5740 5742 5743 6319 6390 6391 6470 6646 6783 684 7087 7167 7357 79660 811 9562 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GLB1 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 2720 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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:299	adenocarcinoma	A4GALT A4GNT ABO ACACA ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ARSA ATP6AP2 B3GALT1 B3GALT5 BAAT C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST3 CHST5 CNTN1 COMT CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2C9 CYP2E1 CYP2R1 CYP3A5 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 ENPP7 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 FUT8 G6PC1 G6PD GAL3ST1 GALNS GALNT12 GALNT3 GALNT6 GCNT1 GFRA2 GGT1 GLUL GPC1 GPC3 GPNMB GPX1 GPX2 GPX3 GUSB HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B1 HSD17B7 HSD3B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LMAN1 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGAT5 MGLL MICA MMP17 MPG MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E NTHL1 OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PSMD10 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDC2 SDHB SDHC SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC26A2 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SORD SPHK1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT1A1 UGT1A6 UGT2B17 UGT8 VCAM1 VCAN VTCN1	100507436 1012 10135 10159 10232 10317 10327 10457 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1462 1543 1544 1545 1559 1571 1577 1583 1584 1585 1586 1588 1589 1591 1594 1604 1605 1636 1646 1718 1738 1836 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 231 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2530 2538 2539 2588 2591 2650 2675 2678 2719 27306 27349 2752 276 277 278 28 2817 283871 284348 2876 2877 2878 2923 2990 3036 3037 3038 308 31 310 3283 3290 3291 3292 3383 339221 3417 3418 3482 353 38 3939 3945 3958 3960 3998 4023 4048 4069 410 412 4199 4249 4326 4350 4360 4507 4595 4669 4680 4684 4758 4907 4913 4968 4973 4978 5095 5096 51146 51196 51477 51478 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 54578 54658 55600 5563 55959 5621 56913 56994 570 57016 57104 5716 57214 5728 5740 5742 5743 60495 6319 6382 6383 6390 6391 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 6652 7086 7167 729238 7367 7368 7412 79679 79695 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8877 8930 8972 9104 9126 9197 9365 9420 9469 9514 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ACE ACSM3 ALOX12 AMY1A AMY1B AMY1C ARSD ARSI B3GAT1 CALR CANX CAT CHPT1 CNTN3 COMT CPT1B DBT GAD1 GPX1 ICAM1 IDS LYZ MAN2C1 MPI PDIA3 PPP1R3B PPP1R3C PTGDS PTGS2 SMUG1 SRD5A2 TNFRSF10C UGCG VCAM1	1312 1375 1629 1636 23583 239 2571 27087 276 277 278 2876 2923 3383 340075 3423 4069 4123 414 4351 5067 5507 56994 5730 5743 6296 6716 7357 7412 79660 811 821 847 8794	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)	DisGeNET
DOID:0060742	methylmalonic acidemia cblA type Aliases: methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110970	brachydactyly type C Aliases: BDC	MGAM MGAT3 SI	4248 6476 8972	Homo sapiens (human)	DisGeNET
DOID:0111154	postural orthostatic tachycardia syndrome Aliases: familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart mitral valve prolapse syndrome orhtostatic intolerance orthostatic intolerance due to NET deficiency postural tachycardia syndrome due to NET deficiency soldiers heart	ABO ACE B3GAT3 CHST3 CYP11B2 DSE ENPP1 HEXB OLR1 PAFAH1B1 PLD1 PRKAA2 SCD XYLT1 XYLT2	1585 1636 26229 28 29940 3074 4973 5048 5167 5337 5563 6319 64131 64132 9469	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	AKR1C2 AMACR CACNA2D2 CERS2 CYP1B1 ENO2 HPGDS HSD3B1 ICAM1 IL18R1 INPP5D ISYNA1 PARP1 PKM PRNP PTEN PTGS2 SLC35A2 SRD5A1 UGT2B17 UGT2B28 XPNPEP2	142 1545 1646 2026 23600 27306 29956 3283 3383 3635 51477 5315 54490 5621 5728 5743 6715 7355 7367 7512 8809 9254	Homo sapiens (human)	DisGeNET
DOID:13976	peptic esophagitis Aliases: Peptic reflux disease Reflux oesophagitis reflux esophagitis	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TNF	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5589 5742 5743 6440 653509 7124 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090072	hypogonadotropic hypogonadism 12 with or without anosmia Aliases: familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin 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
DOID:9277	primary cerebellar degeneration	CEACAM5 FASN GAD1 HSD17B4 IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PRNP PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 2571 3295 3418 4360 51763 5290 5621 5728 5743 7412 8930 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060098	osteoblastoma	APRT CHI3L1	1116 353	Homo sapiens (human)	DisGeNET
DOID:0110460	dilated cardiomyopathy 2A Aliases: CMD2A	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
DOID:7079	adult cystic teratoma	ALPP DHCR24 FMOD GFRA1 PSMD10 PTEN	1718 2331 250 2674 5716 5728	Homo sapiens (human)	DisGeNET
DOID:13121	deficiency anemia Aliases: deficiency anemias	ACO1 CACNA2D3 CAT CD55 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 8398 847	Homo sapiens (human)	DisGeNET

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