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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5126 - 5150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 CD14 CD44 CYP4A11 CYP4A22 CYP7B1 DOLK EOGT HJV INPP5E MPI PIK3CA PKD1 PKD2 PNPLA6 UMOD	10908 148738 1579 1636 207 22845 284541 285203 4351 5290 5310 5311 56623 7369 929 9420 960	Homo sapiens (human)
DOID:4853	pilocytic astrocytoma of cerebellum Aliases: Cerebellar Pilocytic astrocytoma	IDH1	3417	Homo sapiens (human)
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)
DOID:4232	extraosseous Ewing sarcoma Aliases: extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom	AGXT LCT	189 3938	Homo sapiens (human)
DOID:3947	adrenal gland hyperfunction Aliases: Adrenocortical hyperfunction hyperadrenalism hypercortisolism	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ABO ACACA ACACB ACAT1 ACE ACOT7 ACSL5 ACSS2 AGXT AKR1B10 AKR1B1 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 B3GAT1 B3GNT5 B4GALNT1 BAAT BCAN BDH2 CALR CANX CAT CBR1 CD109 CD14 CD22 CD248 CD33 CD38 CD44 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS2 CH25H CHAT CHI3L1 CHPT1 CHST15 CHSY1 CLEC18B CLEC5A CMAS CNTN2 CNTN3 CPT1A CPT1C CS CSPG4 CYB5R2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2E1 CYP46A1 DAG1 DBT DCN DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD EBP ECHS1 EFNA2 ELOVL2 ENO1 ENO2 ENPP1 ENPP2 EXTL3 FADS2 FASN FBP1 FDFT1 FDPS FMOD FOLR1 FUT4 G6PC1 GALNT14 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLO1 GLUL GML GOLPH3 GPC1 GPD1 GPI GPNMB GPX3 HACD1 HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5B INPP5K INPPL1 KL KLRC3 KLRK1 L1CAM L2HGDH LDHA LGALS1 LGALS3 LGALS8 LGALS9 LSS MAN2A1 MCAT ME1 ME2 MGAT1 MGAT5 MICA MMP25 MMUT MPG MRC1 MSLN MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NEU1 NEU3 NEU4 NT5E OCRL OGA OLR1 OPCML PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PI4K2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G4A PLAUR PLCB1 PLCG1 PLD2 PLOD3 PLPP1 PLPP3 PNP POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PSAP PTEN PTGDS PTGS1 PTGS2 RECK RTN4R SDC1 SDC2 SDHA SELP SGMS1 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC35F1 SLC37A4 SLC3A1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SUCLG1 SULF1 SULF2 SYNJ1 SYNJ2 THEM4 TIGAR TKT TKTL1 TM7SF2 TNFRSF10C TNKS TP53 TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 ULBP1 UMOD UNG VCAM1 VNN2 VTCN1	10039 100507436 1012 10135 10159 10232 1040 10457 1048 10682 10724 10825 10855 10858 1087 1103 1116 11181 11332 117145 126129 129807 135228 1374 142 1431 1464 1545 1555 1571 1586 1588 1593 1594 1605 1606 1629 1634 1636 1718 1738 189 1890 1892 1943 2023 2026 2137 218 2194 220 2203 2222 2224 222553 22856 22914 22918 22933 231 23213 23236 2331 2348 23545 23583 23601 240 248 250 2526 2538 2542 2583 259230 2597 2619 2673 27087 27180 2720 27306 27349 2739 2752 2765 28 2817 2819 2821 2878 2923 29956 308 3098 3099 31 310 3161 32 3339 3340 3383 3417 3418 3425 353 3633 3636 378 38 3823 3897 3939 3956 3958 3964 3965 4047 410 412 4124 417 4199 4200 4245 4249 427 4350 4360 4507 4594 4684 4758 4860 4907 4952 497190 4973 4978 501 5048 5067 5130 51363 51548 5167 5168 51700 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5321 5329 5335 5338 54187 54898 55247 55361 5538 5552 55624 5563 55902 55907 55959 5621 5631 5660 56848 56898 56994 570 57016 57103 57124 5728 5730 5742 5743 6382 63827 6383 6389 6403 64083 64386 6480 6489 65078 6515 6519 6646 6900 7086 7108 7157 7167 7357 7358 7360 7369 7374 7412 7903 79623 79679 7991 79944 79947 80270 80329 811 821 8277 84002 8434 847 8505 8525 85365 8560 8611 8613 8658 873 8794 8802 8809 8867 8871 8875 8877 8985 9023 9162 9200 929 933 9365 9415 945 952 960 972	Homo sapiens (human)
DOID:5077	subependymal giant cell astrocytoma Aliases: SEGA	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:4985	extraosseous Ewings sarcoma-primitive neuroepithelial tumor Aliases: extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour	AGXT LCT	189 3938	Homo sapiens (human)
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	AACS ABO ACACA ACE ACER3 ACHE ACLY ACOT7 ACSL5 ACSL6 ADH4 AGRN AKR1B1 AKR1C3 AKR1C4 ALG3 ALOX12 ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSD ASAH1 ATRNL1 B3GALT5 BAAT BST1 CACNA2D1 CACNA2D3 CALR CAT CBR1 CBR3 CD14 CD177 CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CEMIP CHI3L1 CHIT1 CHST9 CLC CLEC12A CLEC7A COLEC10 CPT1A CRYL1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A4 CYP7A1 DAG1 DHDDS DLAT EBP EFNA2 EFNA5 ELOVL6 ENO2 ENPP3 EXTL3 FCER2 FCGR3B FH FOLR2 FUT1 FUT4 G6PC3 G6PD GALNT14 GALNT2 GBE1 GDPD5 GGT1 GLB1L2 GLUL GP2 GPAT3 GPI GPX1 GPX3 GUSB HK2 HMMR HPGDS HPRT1 HPSE2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IL1RAP IL1RL1 INPP4B INPP5D ITPK1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS9 LYZ MACROD2 MBD4 MCAT ME3 MICA MOGS MPI MTMR3 NAMPT NCAM1 NT5E NTM OARD1 OGG1 PAFAH1B1 PARG PARP1 PARP9 PCYT1A PDIA3 PFKFB3 PGP PGS1 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PKD1 PKM PLA2G4A PLA2G5 PLA2R1 PLAUR PLB1 PLCB1 PLCB4 PLCE1 PLCG1 PLCG2 PMM2 PNLIP POGLUT1 POMGNT2 PRKAA2 PTEN PTGES3 PTGS1 PTGS2 QPRT RPN1 RTN4R RTN4RL1 SDC4 SELL SHMT1 SIGLEC5 SIGLEC7 SIRT2 SIRT6 SLC27A5 SLC2A3 SLC2A5 SLC35F3 SLC35G1 SMC3 SMPD3 SMUG1 SOAT1 SPACA3 SPHK1 SRGN ST3GAL4 ST8SIA3 STS TIGAR TMEM260 TNFRSF10C TNKS TP53 UGCG UGT1A1 ULBP2 UMOD UNG VCAM1 VCAN XYLT1	100507436 1012 10135 10195 10317 1056 10584 10682 10728 10873 10998 1109 1116 1118 11332 1178 124912 127 1374 140733 142 1462 146760 148641 151056 1543 1544 1545 1555 1571 1576 1581 159371 160364 1604 1605 1636 1737 1943 1946 2026 2137 2208 221443 2215 2271 22914 22925 22933 231 23236 23305 23475 2350 23556 23583 23600 239 240 248 250 2523 2526 2539 2590 26033 2632 2678 27036 27306 27349 2752 28 2813 2821 283871 2876 2878 2923 2990 307 308 3099 31 3161 3251 3383 3417 3418 3425 353 3554 3556 3635 3705 375790 3824 3956 3958 3965 4069 412 414 427 43 4351 4684 47 4907 4968 5048 50863 51046 51084 51196 5130 51548 5169 51703 5209 5277 5290 5291 5293 5294 5305 5310 5315 5321 5322 5329 5332 5335 5336 5373 5406 54658 54916 55331 55512 5552 5563 55799 56983 570 57103 57126 57214 5728 5742 5743 60495 6184 6385 6402 64131 64581 6470 6484 65078 6515 6518 65985 6646 683 7157 7357 7369 7374 7412 781 7841 79071 79623 79947 80328 811 81544 83539 83666 8396 847 84803 84892 8505 8644 8658 873 874 8778 8794 8809 8821 8877 8897 8930 89944 9126 9173 92579 929 933 945 9489 952 960 962 972	Homo sapiens (human)
DOID:50	thyroid gland disease	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	ACE ALDH1A3 ALG9 APRT ARF4 B3GLCT CALR COMT CPT2 CYP4A11 DHCR7 GANAB GLA GPC3 INPP5E PGD PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKCSH PTGDS PTGS1 PTGS2 SELE SMC3 XYLT2	114780 1312 1376 145173 1579 1636 1717 220 23193 23556 2717 2719 342372 353 378 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5589 56623 5730 5742 5743 6401 64132 79796 811 9126	Homo sapiens (human)
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	Homo sapiens (human)
DOID:0110729	neuronal ceroid lipofuscinosis 6A Aliases: CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SMPD1	1203 22901 2571 2572 3956 47 5310 5538 5660 6609 7957 9374	Homo sapiens (human)
DOID:0110538	autosomal recessive nonsyndromic deafness 96 Aliases: DFNB96 autosomal recessive deafness 96	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:2951	motion sickness Aliases: Travel Sickness	GPD2	2820	Homo sapiens (human)
DOID:3341	osteitis fibrosa Aliases: Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	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)

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