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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 **2776 - 2800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8 MAN1A1	4121 79053	Homo sapiens (human)
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:11396	pulmonary edema	ACE ALOX5 CAT CYP11B2 SFTPA1 SGMS1 TNF	1585 1636 240 259230 653509 7124 847	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:0060867	macrocephaly-autism syndrome Aliases: macrocephaly-intellectual disability-autism syndrome	PTEN	5728	Homo sapiens (human)
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	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:4960	bone marrow cancer Aliases: bone Marrow tumor bone marrow neoplasm malignant bone Marrow tumor malignant neoplasm of bone marrow	ACE ALOX12 ALOX5 CALR CAT CD177 CD33 CD44 CEL CHI3L1 CHIT1 CYP3A4 FUT1 FUT4 G6PC1 G6PD GPX1 GUSB HPRT1 HPSE IDH1 IDH2 IDS IL18R1 INPP5D LGALS1 LGALS3 MUTYH NAAA OGG1 PAFAH1B1 PARP1 PCYT1A PFKFB3 PIGA PIK3CA PIK3CB PIK3CD PIK3CG POFUT1 SIGLEC7 SOAT1 VCAM1	1056 10855 1116 1118 142 1576 1636 23509 239 240 2523 2526 2538 2539 27036 27163 2876 2990 3251 3417 3418 3423 3635 3956 3958 4595 4968 5048 5130 5209 5277 5290 5291 5293 5294 57126 6646 7412 811 847 8809 945 960	Homo sapiens (human)
DOID:0090059	enhanced S-cone syndrome	NYX	60506	Homo sapiens (human)
DOID:14070	vestibular nystagmus Aliases: Nystagmus associated with disorder of the vestibular system	PRNP	5621	Homo sapiens (human)
DOID:3683	lung benign neoplasm Aliases: tumor of the lung	ABO ACACA ACAT1 ACE ACHE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ARSB ARSF ASAH1 ATP6AP2 ATRNL1 B3GAT1 B4GALT1 BPHL BST1 CACNA2D2 CALR CANX CAT CBR1 CD109 CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS6 CHAT CHI3L1 CHKA CHKB CHPT1 CHST15 CHST7 CLEC10A CLEC1B CNTN1 COG8 COLGALT2 COMT CPT1C CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP4F3 DCN DDOST DGKH DHCR24 DHDDS DHDH DLD EBP EFNA1 ELOVL6 ENO1 ENO2 ENO3 ENPP1 ENPP2 EPHX2 ERLEC1 EXTL3 FADS1 FADS2 FASN FBP1 FCN2 FDFT1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT8 FUT9 G6PD GALC GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GGT5 GLB1 GLCE GLDC GLUL GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 HADHA HAS2 HK1 HK2 HKDC1 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HYAL1 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKB KL KLRB1 KLRK1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYPD5 MBD4 MBL2 MCAT ME1 ME2 MGAT5 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKLR PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A10 SLC2A3 SLC2A5 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 TBXAS1 THEM4 TIGAR TM7SF2 TMED6 TNKS2 TNKS TPI1 TPST1 TREH TUSC3 TYMP UGDH UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT2B17 UGT8 ULBP1 UMPS UNG VCAM1 VCAN VTCN1 XXYLT1	100507436 1012 10159 10232 10327 10462 1048 10682 10690 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 126129 1272 128 130120 1312 135228 142 1462 146456 151056 152002 1543 1544 1545 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1836 1890 1942 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 23127 23175 23205 23213 23409 2350 23509 23583 23600 242 248 250 2523 2524 2525 2526 2527 252969 2530 253782 2539 2581 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 2687 27087 2719 2720 27248 27294 27306 2731 27349 2752 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 3030 3037 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 411 412 4153 416 4199 4200 4249 427 43 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51266 5130 51363 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5289 5290 5291 5293 5294 5310 5313 5315 5319 5320 5321 5329 5333 5335 54575 54577 54578 54658 54675 54742 5552 5553 5563 55959 56052 5621 56548 56848 56994 57016 57103 57104 5728 5730 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 64083 6440 6441 6470 6472 6480 6489 6515 6518 6523 653509 6646 670 6713 6783 683 6916 7108 7167 729238 7358 7367 7368 7372 7374 7412 7841 7903 79071 79679 79888 7991 79947 80201 80329 80351 81031 811 81890 821 8398 8399 8434 84342 84513 8460 847 84750 8505 8630 8644 8658 8692 873 8809 8821 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:318	progressive muscular atrophy Aliases: Pure progressive muscular atrophy progressive spinal muscular atrophy	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPI ALPP APRT ARSF ASAH1 ATRNL1 CALR CANX CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHODL CHST2 CLEC10A CNTFR CNTN1 CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN2 FCN3 FIG4 FUT1 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GM2A GPNMB GPX3 GPX7 HADHA HEXA HK1 HPGDS HSPG2 IGF2R IL18R1 INPP5B KDSR KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10908 1113 1116 1117 1118 11343 117145 1271 1272 128 140578 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 2220 22933 23098 23236 23583 240 246 248 250 2523 2531 2597 26033 26035 2629 2674 27036 27306 2752 2760 2878 2882 2923 3030 3073 3098 3339 3482 353 3633 39 3956 3957 3958 3960 416 4190 427 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 821 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)
DOID:0090090	hypogonadotropic hypogonadism 19 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:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:10952	nephritis	ABO ACACA ACACB ACE ACSL1 ACSL4 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GCK GFPT1 GLA GLO1 GPC5 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LAYN LCAT LGALS1 LGALS3 LGALS9 LIPC LPIN2 LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OCRL OGA OGG1 PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PKM PLA2G1B PLA2G2A PLA2R1 PLAUR PLB1 PLCE1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 1555 1557 1558 1559 1571 1573 1577 1588 1591 1594 1634 1636 1650 1743 2023 2026 2053 2180 2182 2215 2220 2262 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4952 4968 5048 5067 5091 51196 51548 5167 5294 5310 5311 5315 5319 5320 5329 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7367 7369 7412 78989 7903 79679 811 847 8526 8877 9104 9197 9365 9415 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	APRT CALR DPAGT1 GNPTAB GNPTG GUSB IDUA IGF2R NAGPA OGA PLCD1 PLCG1	10724 1798 2990 3425 3482 353 51172 5333 5335 79158 811 84572	Homo sapiens (human)
DOID:0050760	X-linked myopathy with excessive autophagy Aliases: XMEA	GNE PYGM	10020 5837	Homo sapiens (human)
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	ABO AGL AGPAT2 ALOX5 ANXA5 APRT ARSD ATP6AP2 CBR1 CD33 CD38 CD44 CEACAM7 CHST3 CYP2B6 EBP FH FUT1 FUT4 GFRA1 GLB1 HK3 HPRT1 HSPG2 ICAM1 IDH1 IDH2 IL18R1 KLRB1 KLRD1 LGALS12 LGALS1 LGALS3 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGDS PTGS1 PTGS2 SDHD SMPD1 SOAT1 SRGN TNFRSF10C	10159 10555 10682 1087 1555 178 2271 240 2523 2526 2674 2720 28 308 3101 3251 3339 3383 3417 3418 353 3820 3824 3956 3958 414 4684 5290 5291 5293 5294 5552 57104 5728 5730 5742 5743 6392 6609 6646 85329 873 8794 8809 945 9469 952 960	Homo sapiens (human)
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	CHI3L1	1116	Homo sapiens (human)
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SCP2	1203 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:0110823	hereditary spastic paraplegia 8 Aliases: SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8	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)

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