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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 **4051 - 4075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4810	cerebrotendinous xanthomatosis Aliases: Cholestanol storage disease	B4GALNT2 CYP27A1 CYP27B1 CYP2B6 CYP3A4 HSD11B1 HSD11B2 PTGDS	124872 1555 1576 1593 1594 3290 3291 5730	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:204	enthesopathy	ACLY ADH1B CALR CD14 CD22 CD44 ENPP1 FMOD FOLR2 HSPG2 KL KLRC1 KLRD1 LGALS8 NT5E PTGS2 SELL VCAM1	125 2331 2350 3339 3821 3824 3964 47 4907 5167 5743 6402 7412 811 929 933 9365 960	Homo sapiens (human)
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 FDPS G6PD GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 UGT1A1 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 2539 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 54658 5506 55500 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACADVL ACE ACSS2 AKR1B1 ALDH7A1 ALOX12 ALOX5 ANXA5 APRT ARSA ASAH1 BAAT BST1 CALR CAT CD14 CD248 CD44 CD55 CD74 CEACAM5 CEL CEMIP CHI3L1 CHST7 CLEC1B CLEC6A CLEC7A CLEC9A COLEC11 CRPPA CTSA CYP1A1 CYP1A2 CYP2B6 CYP2E1 DEGS1 EPHX2 FCGR3B FCN2 FDPS FUT2 GLA GPX1 HACD1 HPGDS HSD11B1 ICAM1 IGF2R IL1R1 ISYNA1 ITLN1 KLRB1 LCLAT1 LCT LGALS3 LGALS9 MASP2 MBL2 MCEE MICA MPPE1 MRC1 NAAA NAMPT PARP1 PARP9 PIGW PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKD1 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLD1 PLD2 PNP PTGDS PTGES PTGS1 PTGS2 REG3G RENBP SDC1 SDC2 SDC4 SELL SELP SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIGLEC8 SLC17A5 SLC27A5 SLC2A10 SLC35A1 SLC5A1 SMC3 SMPD1 SMPD2 SMUG1 SPHK2 ST8SIA4 STS SULF1 TM7SF2 UGCG VCAM1 VCAN	100507436 10135 1048 10559 1056 10747 10998 1116 130120 142 1462 1543 1544 1555 1571 1604 1636 200576 2053 2215 2220 2224 231 23213 23583 23659 239 240 2524 253558 26503 27163 2717 27181 27306 28 283420 284098 2876 308 3290 3383 3482 353 3554 37 3820 3938 3958 3965 410 412 4153 427 4360 4860 501 51266 51477 5290 5291 5293 5294 5310 5319 5320 5321 5322 5337 5338 5476 55600 55902 56548 56848 570 57124 57214 5730 5742 5743 5973 6382 6383 6385 6402 6403 6440 6441 64581 6523 65258 653509 6609 6610 683 7108 729238 729920 7357 7412 78989 7903 81031 811 83666 8398 84693 847 8482 8560 8879 9126 9200 929 93978 9536 960 972	Homo sapiens (human)
DOID:0110793	hereditary spastic paraplegia 41 Aliases: SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41	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:0060485	Mowat-Wilson syndrome Aliases: Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease	ARSD	414	Homo sapiens (human)
DOID:4953	poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:116	pericardium cancer Aliases: Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium	CYP1A2	1544	Homo sapiens (human)
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:1856	cherubism	ACAN APRT B3GALT6 B3GAT1 DCN EXT1 EXT2 EXTL3 HPSE IDH1 IDH2 PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 126792 1634 176 2131 2132 2137 23583 27087 3417 3418 353 5336 5728 5743 8658	Homo sapiens (human)
DOID:13197	nodular goiter Aliases: Goiter, nodular nodular goitre	ALG1 CYP24A1 LGALS3 MINPP1 TPI1	1591 3958 56052 7167 9562	Homo sapiens (human)
DOID:0090087	hypogonadotropic hypogonadism 14 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:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	UGT1A1	54658	Homo sapiens (human)
DOID:930	orbital disease	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:1003	pelvic inflammatory disease Aliases: PID	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:1596	depressive disorder Aliases: mental depression	ABAT ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 B3GLCT BST1 CACNA2D1 CALR CAT CD14 CD38 CDH13 CDS1 CHAT CHI3L1 CHPF CHPT1 CHST9 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP46A1 CYP7B1 DAG1 DEGS1 DGKB DGKG DHDDS DLD DPY19L3 EDEM1 ELOVL5 ENO2 EPHX2 EPM2A FADS1 FADS2 FASN FDPS FIG4 FUT3 GAD1 GAD2 GALC GBA1 GLA GLB1 GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 GPX3 GPX6 GSK3B HACD3 HPGDS HPSE HS6ST1 HSD11B1 HSD11B2 HSD3B2 HTR2A ICAM1 IDS IDUA IL18R1 IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LARGE1 LDHA LGALS1 LGALS3 LIPA LIPG LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDH2 ME1 MGAM MGAT4B MGAT5 MPG MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NPY1R NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP15 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRKAA2 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RENBP RGN SCD5 SCD SDHD SELE SELP SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST6GALNAC2 ST8SIA4 STT3A SUCLA2 SULT1E1 SYNJ2 TECR TGDS TNKS2 TNKS TUSC3 UGCG UPP2 VCAM1 VTCN1 XYLT2	1012 10159 10327 1040 10610 10855 10858 10908 1103 1109 1116 11253 11282 11332 116285 125 126 1298 1312 1374 142 1431 145173 1463 1464 147991 148789 151056 151531 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1593 159371 1605 1607 1608 1636 1646 165631 166929 1738 18 2026 2053 217 218 2182 2194 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2525 2571 2572 257202 2581 26253 2629 26503 266727 27036 27087 2717 2720 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 2878 2923 2932 307 31 32 3284 3290 3291 3340 3356 3383 340075 3423 3425 353 3554 3613 3636 3703 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 4249 43 4350 4595 4684 4886 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5313 5319 5320 5321 5332 5335 53942 54187 54625 54675 5507 5538 5563 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 5973 60481 6319 6392 6401 6403 64083 64132 6448 6476 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7941 7957 79586 79660 79661 79679 7991 79947 79966 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8809 8871 8972 9104 9197 9215 929 9348 9365 9388 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	AKR1B1 AKR1C2 AKR1C4 CAT CYP11A1 CYP11B1 CYP11B2 GPX2 HPSE LPIN1 PGD PLCB4 PLCE1 PTGS2	10855 1109 1583 1584 1585 1646 231 23175 2877 51196 5226 5332 5743 847	Homo sapiens (human)
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	AKR1C2 AKR1C4 ALG12 ALG8 ANXA5 ATP6V0A2 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CD44 CHST14 COG1 COG5 COLEC10 COLEC11 COMT CRPPA CYP11A1 CYP11B1 CYP17A1 CYP19A1 DAG1 DHDDS EBP EXT2 FIG4 FKRP FKTN G6PC3 GMPPB GPC3 GPC6 HACD1 HIBCH HPGDS HPSE2 HS6ST1 HSD17B3 HSD3B2 INPPL1 LARGE1 LFNG MASP1 MTM1 MTMR14 OCRL OGT PGK2 PIGN PIK3C2A PIK3CA PMM2 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTGDS RXYLT1 SGPL1 SLC26A2 SLC35D1 SMC3 SRD5A2 STS STT3B TGDS	10082 10329 10466 10584 10585 10682 10908 11041 1109 11285 113189 1312 145173 148789 1583 1584 1586 1588 1605 1646 1836 201595 2132 2218 23169 23483 23545 23556 26275 2719 27306 29925 29954 308 3284 3293 3636 3955 412 4534 4952 523 5232 5286 5290 5373 55624 5648 5730 60495 64419 6716 729920 78989 79053 79087 79147 79947 84197 8473 84892 8879 9126 9200 9215 92579 9382 9394 960 9791 9896	Homo sapiens (human)
DOID:0111441	optic atrophy 1 Aliases: OPA1	ACO2 CYP1B1 DGKG PKLR PRKAA2 SDHA SLC5A1 TMED9 TREH	11181 1545 1608 50 5313 54732 5563 6389 6523	Homo sapiens (human)
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:1591	renovascular hypertension	ACE FIG4 G6PD PKD1 PTGS1 PTGS2 SLC33A1 TM7SF2	1636 2539 5310 5742 5743 7108 9197 9896	Homo sapiens (human)

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