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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 **3926 - 3950** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	ABO ACE CAT CD55 CHGA DPEP1 EXTL3 PCYT1A PIGA PTEN QTRT1 SELE SELP SIRT2 TBXAS1 VCAM1	1113 1604 1636 1800 2137 22933 28 5130 5277 5728 6401 6403 6916 7412 81890 847	Homo sapiens (human)
DOID:0080087	nonsyndromic congenital nail disorder 9	ALG3 DPM1 EXT2 GPC3 PLOD3	10195 2132 2719 8813 8985	Homo sapiens (human)
DOID:582	hemoglobinuria	G6PD PIGA	2539 5277	Homo sapiens (human)
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)
DOID:4847	cauda equina neoplasm Aliases: tumor of the Cauda Equina	ACHE	43	Homo sapiens (human)
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	ACACA 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 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0110454	dilated cardiomyopathy 1S Aliases: CMD1S	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:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	ABO ACACA ACE ALOX12 ATRN CAT CD248 CD44 CYP24A1 CYP27A1 CYP27B1 CYP2B6 FUT1 GGT1 GPC3 HPGDS HSD11B1 HSD11B2 ICAM1 INPP5A INPP5K ISYNA1 KDSR LGALS3 LGALS9 LTA4H MICA MRC1 MTAP NCAM1 NTHL1 OCRL OGG1 PARP1 PEMT PIGU PIK3CA PIK3CD PIK3CG PKM PTEN PTGES PTGS2 SDC1 SDHB SIRT2 SIRT6 SORD STT3A SULF2 TALDO1 TDG TNKS2 VCAM1 VCAN XYLT2	100507436 10400 128869 142 1462 1555 1591 1593 1594 1636 22933 239 2523 2531 2678 2719 27306 28 31 3290 3291 3383 3632 3703 3958 3965 4048 4360 4507 4684 4913 4952 4968 51477 51548 51763 5290 5293 5294 5315 55959 57124 5728 5743 6382 6390 64132 6652 6888 6996 7412 80351 8455 847 9536 960	Homo sapiens (human)
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	ATP6AP2 CEL CHI3L1 LGALS9 PARP9 SLC27A5 TNF	10159 1056 10998 1116 3965 7124 83666	Homo sapiens (human)
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	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:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	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:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)
DOID:5439	papillary hidradenoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
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)
DOID:2825	nose disease Aliases: disorder of the nose nasal disorder	PTGS1 PTGS2	5742 5743	Homo sapiens (human)
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	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)
DOID:9931	Waterhouse-Friderichsen syndrome Aliases: Meningococcal hemorrhagic adrenalitis	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 6523 9197 9469 960	Homo sapiens (human)
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	ABO ACE CALR CD14 CD22 CD33 CD38 CD55 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 FUT4 HACD1 HPGDS HPRT1 HPSE2 IDH1 IDH2 IDUA INPP5D LGALS1 NAAA NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 SELE SIGLEC7 SMUG1 SOAT1 STS UNG VCAN XYLT2	142 1462 1543 1555 1576 1577 1604 1636 22925 23583 2526 27036 27163 27306 28 3251 3417 3418 3425 3635 3956 412 4684 4968 51084 5290 5291 5293 5294 60495 6401 64132 6646 7374 811 9200 929 933 945 9487 952	Homo sapiens (human)
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)
DOID:4626	hydranencephaly	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:0110560	autosomal dominant nonsyndromic deafness 30 Aliases: DFNA30 autosomal dominant deafness 30	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:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	ABO ACACA ACADL ACOT7 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKT1 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ANXA5 APRT BAAT BST2 C1GALT1 CACNA2D3 CALR CD14 CD44 CDH13 CEACAM5 CEACAM7 CHI3L1 CHKA CHPT1 CHST15 CNTN1 COMT CPT1A CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCTD DGKA DHDDS DHDH EFNA1 FASN FUT4 G6PD GALNT14 GALNT7 GAPDH GBE1 GCNT2 GLO1 GOLPH3 GPC1 GPD2 GPX3 HAS3 HK2 HMGCS2 HPGDS HPSE ICAM1 IDH1 IDH2 KAT2B KLRK1 L1CAM LDHA LDHB LGALS9 LY6K LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MICA MRC1 MTAP MUTYH NEIL1 NT5E OGG1 OPCML PARG PARP1 PARP4 PDHA1 PFKFB3 PGD PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G2A PLA2G4A PLCD1 PLCE1 PRSS8 PTEN PTGES2 PTGES PTGS1 PTGS2 RECK RPN2 SDC2 SHMT1 SHMT2 SIGLEC7 SIRT4 SLC27A5 SMUG1 SOAT1 SPHK1 SQLE SRGN ST6GALNAC1 TIGAR TKTL1 TP53 TPI1 TUSC3 TYMP UGT1A1 UGT1A8 UGT2B17 UGT2B4 UMPS UNG UPP1 VTCN1	100507436 1012 10195 10327 1048 10747 10855 1087 10998 1116 1119 11332 124 125 126 127 1272 128 131 1312 1374 142 143 1543 1544 1545 1555 1557 1559 1571 1576 1577 1583 1591 1606 1635 1645 1646 1890 1942 207 217 2194 22914 23409 23583 239 240 246 2526 2539 2597 2632 2651 27036 27294 27306 27349 2739 28 2817 2820 284348 2878 3038 308 3099 31 3158 33 3383 3417 3418 353 3897 3939 3945 3965 4153 4360 4507 4595 4907 4968 4978 501 51196 51363 5160 51809 5209 5226 5287 5290 5291 5293 5294 5315 5320 5321 5333 54576 54658 54742 5552 55750 55799 55808 55902 5648 5652 56913 56994 570 57016 57103 5728 5742 5743 6185 6383 64083 6470 6472 6646 6713 684 7157 7167 7363 7367 7372 7374 7378 79623 79661 79679 7991 79947 80142 811 8277 8434 8505 8850 8877 8930 929 9536 960	Homo sapiens (human)
DOID:2645	benign mesothelioma Aliases: benign tumor of Mesothelium	ACACA AKR1C1 AKR1C2 AKR1C3 ALOX12 ALOX15 ALOX5 ANXA4 APRT BST1 CALR CAT CD14 CD44 CD74 CEACAM5 CEACAM7 CSPG4 CYP19A1 CYP1A1 DLD FCN2 FOLR1 FOLR2 FUT4 GLB1 GPC1 GPC3 GPI HPGDS HPSE ICAM1 ICAM2 IDUA ITLN1 KLRK1 L1CAM LGALS3 LGALS9 MRC1 MSLN MTAP MTMR4 NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTEN PTGS2 SDC1 SDC2 SIGLEC7 SLC26A2 SMUG1 SPHK1 TBXAS1 TM7SF2 TNFRSF10C TYMP VCAM1 VCAN	10232 1048 10855 1087 142 1462 1464 151056 1543 1588 1645 1646 1738 1836 1890 2220 22914 2348 2350 23583 239 240 246 2526 27036 2719 2720 27306 2817 2821 307 31 3383 3384 3425 353 3897 3958 3965 4360 4507 4907 5290 5291 5293 5294 5321 55600 5728 5743 6382 6383 683 6916 7108 7412 811 847 8644 8794 8877 9110 929 960 972	Homo sapiens (human)
DOID:0060668	anencephaly	ABO B4GAT1 COMT EFNA5	11041 1312 1946 28	Homo sapiens (human)

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