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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 **2301 - 2325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
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:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)
DOID:14777	benign familial neonatal epilepsy Aliases: familial neonatal seizures	GALE	2582	Homo sapiens (human)
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)
DOID:4535	hypotrichosis	ALOX12B GALNT3 GLB1 LSS PIGL PTGS2 SULT2B1 XYLT1	242 2591 2720 4047 5743 64131 6820 9487	Homo sapiens (human)
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:0110047	Alzheimer's disease 14 Aliases: AD14 Alzheimer disease 14 Alzheimer's disease 14, late onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0110507	autosomal recessive nonsyndromic deafness 5 Aliases: DFNB5 autosomal recessive deafness 5	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:2283	keratopathy	ICAM1 VCAM1	3383 7412	Homo sapiens (human)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 AKT1 AKT2 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GALT4 B3GAT1 B4GALNT1 BST1 CALR3 CALR CAT CD14 CD38 CD44 CD55 CEACAM6 CEL CHAT CHI3L1 CHIT1 CNTN1 CNTN2 COMT CTNS CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A5 CYP4F3 DCN DGKD DHRS11 DLD DPEP1 ELOVL7 ENO2 EPHX2 FASN FBP1 FBXO2 FCER2 FCGR3B FH G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPI GPNMB GPX1 GSK3B GSTO1 GSTO2 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2 IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LEP LGALS1 LGALS3 LGALS4 LYPD5 MAG MAPK14 MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E NTM OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGK2 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PPARGC1A PRKAA1 PRKAA2 PRNP PSAP PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RENBP RGMA RTN4R SARM1 SCD SDHA SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC17A5 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST3GAL2 ST8SIA4 STBD1 SUCLA2 SYNJ1 SYNJ2 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10891 10908 1103 1116 1118 11332 11343 119391 125 125972 126 127 1272 131 1312 132789 142 1432 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 207 208 217 2194 2203 2208 2215 2271 22876 22933 23098 23205 23583 23761 2539 2571 2572 2581 2583 2588 2597 26232 2629 26503 2673 27036 27087 2717 2720 27306 27349 2752 2821 283871 284348 2876 2923 2932 3037 3073 308 3098 3099 31 3383 3425 3481 3482 353 3897 3952 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 50863 51477 51478 5160 51763 5230 5232 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5562 5563 5621 5660 56963 57103 5728 5730 5740 5743 57704 5973 6319 6389 64116 64132 6470 6472 6476 6483 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8705 8803 8867 8871 8987 9197 929 9365 9446 952 9536 960	Homo sapiens (human)
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	ACACA CD44 CHGA CMAS CNTN4 DLST ENO2 FH GUSB IDH1 IDH2 MDH2 PARP1 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC25A11 SMUG1 SORD TYMP VCAM1	1113 142 152330 1743 1890 2026 2271 23583 2990 31 3417 3418 4191 55907 5728 5743 6389 6390 6391 6392 6652 7412 8402 960	Homo sapiens (human)
DOID:0060298	complement component 4b deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:0060297	complement component 4a deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	ARSB CHAT EXT1 EXT2 EXTL2 EXTL3 GNS HGSNAT IDS IDUA NAGLU OGA SGSH SUMF1	10724 1103 138050 2131 2132 2135 2137 2799 285362 3423 3425 411 4669 6448	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE ADIPOQ ADRB3 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 INS ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PDX1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PPARGC1A PRKAA2 PRNP PTEN PTGS2 RBP4 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TLR4 TM7SF2 TNF UMOD UPP1 VCAM1	1012 10159 10327 10891 142 155 1636 207 217 231 23409 23545 2517 2571 2572 2597 2645 266722 2678 2739 2752 3099 3383 3630 3651 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5950 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7099 7108 7124 7369 7378 7412 7903 7941 847 8473 8704 929 9370 9388 972	Homo sapiens (human)
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	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:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	APRT CALR CHIT1 CTSA CYP21A2 DHCR7 DPAGT1 FUCA2 GLB1 GNPTAB GNPTG GUSB HEXA HPRT1 IDS IDUA IGF2R NAGPA NEU1 OGA PLCD1 PLCG1	10724 1118 1589 1717 1798 2519 2720 2990 3073 3251 3423 3425 3482 353 4758 51172 5333 5335 5476 79158 811 84572	Homo sapiens (human)
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	ALDH7A1 CYP2C19 GAPDH	1557 2597 501	Homo sapiens (human)
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)

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