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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 **3151 - 3175** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:7757	childhood leukemia	ABO ACE ACHE AKR1C3 AKR1C4 ALOX5 ALPI ALPP ANXA7 APRT ARSH B3GAT1 B4GALT1 BPHL BST2 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD48 CH25H CHI3L1 CLEC12A CNTN2 CSPG4 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A5 DAG1 DGKA DLD EBP ENO2 ENOSF1 EXT1 FCER2 FCGR3B FMOD FUT1 FUT3 FUT4 G6PD GLB1 GPI GPX3 HK1 HK2 HMMR HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IL18R1 IL1R1 IL1RL1 INPP4B INPP5D KLRK1 LDHA LGALS1 LGALS3 LYZ MACROD1 MICA MRC1 MSLN NAMPT NCAM1 NT5E PAFAH1B1 PARG PARP1 PARP4 PGD PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKM PLA2R1 POGLUT1 PRKAA2 PTEN PTGS1 PTGS2 RPN1 RTN4R SELE SELL SHMT1 SIGLEC10 SIGLEC1 SIRT6 SLC39A8 SMPD2 SOAT1 ST8SIA4 TALDO1 TIGAR TNFRSF10C UGCG ULBP2 UMOD UNG VCAM1 VTCN1	100507436 10135 10232 10682 1109 1116 142 143 1464 1543 1545 1555 1571 1577 160364 1605 1606 1636 1738 2026 2131 2208 2215 22914 22925 2331 240 248 250 2523 2525 2526 2539 2683 27087 2720 27306 28 2821 283871 2878 28992 3098 3099 310 3161 3251 3291 3383 3417 3418 347527 353 3554 3635 3939 3956 3958 4069 43 4360 4684 4907 5048 51548 5226 5290 5291 5293 5294 5305 5315 55300 55556 5563 56983 57103 5728 5742 5743 6184 6401 6402 64116 6470 65078 6610 6614 6646 670 684 6888 6900 7357 7369 7374 7412 7903 79679 80328 811 8505 8644 8794 8809 8821 89790 9023 912 9173 929 933 945 952 960 962	Homo sapiens (human)
DOID:0110182	Charcot-Marie-Tooth disease axonal type 2C Aliases: CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc	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:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:3846	adamantinous craniopharyngioma Aliases: Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE ANXA5 CALR GLUL INS L1CAM MSLN PDHX TYMP UGP2 VTCN1	10232 1636 1890 2752 308 3630 3897 7360 79679 8050 811	Homo sapiens (human)
DOID:4988	alcoholic pancreatitis	ADH1B ADH1C ADH4 AKR1A1 ALDH2 CD14 CEL CYP2E1 HPGDS LPL UGT1A7	10327 1056 125 126 127 1571 217 27306 4023 54577 929	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:9584	Venezuelan equine encephalitis	SMUG1	23583	Homo sapiens (human)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6	1312 1555	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	GCK INS KCNJ11 SLC2A2	2645 3630 3767 6514	Homo sapiens (human)
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	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:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H Aliases: LGMD1H muscular dystrophy limb-girdle type 1H	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP 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 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:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:4929	tubular adenocarcinoma Aliases: tubular carcinoma	A4GALT A4GNT ABO ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ATP6AP2 B3GALT1 B3GALT5 C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST5 CNTN1 COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 G6PD GAL3ST1 GALNS GALNT3 GALNT6 GCNT1 GGT1 GPC1 GPC3 GPX1 GPX3 HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD17B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGLL MICA MMP17 MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E 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 PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDHB SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT2B17 UGT8 VCAM1 VTCN1	100507436 1012 10135 10159 10232 10317 10327 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1543 1544 1545 1571 1585 1586 1588 1591 1594 1604 1605 1636 1646 1718 1738 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2539 2588 2591 2650 2678 2719 27306 27349 276 277 278 28 2817 283871 284348 2876 2878 2923 3036 3037 3038 308 310 3290 3292 3383 3417 3418 3482 353 38 3939 3945 3958 3960 4023 4048 4069 412 4199 4326 4360 4507 4595 4669 4680 4684 4758 4907 4968 4973 4978 5095 5096 51146 51196 51477 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 55600 5563 55959 5621 56913 56994 57016 57104 57214 5728 5740 5742 5743 60495 6319 6382 6390 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 7086 7167 729238 7367 7368 7412 79679 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8930 8972 9104 9126 9197 9365 9420 9514 9536 960	Homo sapiens (human)
DOID:4428	dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:0110795	hereditary spastic paraplegia 43 Aliases: SPG43 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43	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:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	CYP17A1 CYP19A1 HJV	148738 1586 1588	Homo sapiens (human)
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)

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