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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 **6226 - 6250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2321	obsolete dyspepsia	AGA CD14 CHGA COMT CYP2C19 GGT1 PTGDS PTGS1 PTGS2 UGT1A9	1113 1312 1557 175 2678 54600 5730 5742 5743 929	Homo sapiens (human)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	CD14 CYP3A4 LYZ PCNA PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 UCP2 VCAM1	10908 1576 4069 5111 5290 5291 5293 5294 7351 7412 929	Homo sapiens (human)
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B Aliases: LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP ANXA5 APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 308 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	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: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)
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:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	ACE CHI3L1 GBA1 GGT1 GLDC OGA OGG1 PAFAH1B1 PIK3C2G PLCG2 PRNP PTEN SMUG1 TPI1	10724 1116 1636 23583 2629 2678 2731 4968 5048 5288 5336 5621 5728 7167	Homo sapiens (human)
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:1787	pericarditis	CAT LACC1 NT5E PMM2 SMUG1	144811 23583 4907 5373 847	Homo sapiens (human)
DOID:9460	uterine corpus cancer Aliases: corpus uteri cancer	ABO ACAT1 ACE ACSS2 ADH7 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALOX5 ANXA5 APRT ATP6AP2 BAAT BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENOSF1 EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 PARP1 PDIA3 PGAM2 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TNFRSF10C TNKS2 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 308 3161 3283 3284 3292 3294 3295 3373 3417 3482 353 38 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 51363 51478 51548 5224 5230 5290 5291 5293 5294 5315 5319 5320 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 5728 5743 6319 6382 6390 6391 6392 64083 6515 6517 6646 6677 6716 6783 6820 684 7364 7367 79154 79679 79947 80142 80351 811 8372 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	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)
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	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:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	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:0110558	autosomal dominant nonsyndromic deafness 2A Aliases: DFNA2A autosomal dominant deafness 2A	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:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	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)
DOID:3007	breast ductal carcinoma Aliases: duct carcinoma	AKR1C3 ALDOA ALOX15 CD109 CD44 CRLS1 HPGDS HSD17B7 NEU1 PCYT1B PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE SMUG1 SULF1 TEX101 VTCN1	135228 226 23213 23583 246 27306 2923 4758 51478 5290 5291 5293 5294 54675 5728 5743 6382 6401 79679 83639 8644 9468 960	Homo sapiens (human)
DOID:5557	testicular germ cell cancer Aliases: germ cell tumor of testis	ACE ALDH1A3 ALDH7A1 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP2B6 ETNK1 GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 IL18R1 LDHC LGALS3 MCFD2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 STS TKTL1	1047 1555 1586 1588 1636 220 23583 240 242 250 2650 2678 2719 27306 3161 3295 3948 3958 412 4360 501 5226 5290 5291 5293 5294 55500 5716 5728 6518 8277 8809 90411 960	Homo sapiens (human)
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1 TFAP2B	1103 1109 1545 1555 1634 4907 4968 7021 847 8818	Homo sapiens (human)

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