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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 **1776 - 1800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110524	autosomal recessive nonsyndromic deafness 76 Aliases: DFNB76 autosomal recessive deafness 76	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:11486	Horner's syndrome Aliases: Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis	ACE ACHE ATP6AP2 COMT GLA PIK3CA PIK3CB PIK3CD PIK3CG PRNP SPTLC1 TM7SF2	10159 10558 1312 1636 2717 43 5290 5291 5293 5294 5621 7108	Homo sapiens (human)
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	ACACA ACE ACHE ACO1 ACO2 ACOT7 ACSBG1 ADH1B ADH1C ADH4 ADH7 AKR1A1 ALDH2 ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B4GALNT1 BST1 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 G6PD GAD1 GAD2 GALC GALNS GAPDH GBA1 GBA2 GFPT1 GLA GLB1 GLUL GNPDA2 GPNMB GPX1 HAS2 HEXA HK1 HK2 HPGDS HSD17B6 HSD17B7 HSD3B7 ICAM1 IDUA IGF2R INPP5F INPP5K ISYNA1 KL L1CAM LGALS1 LGALS3 LGALS4 LYPD5 MAG MCAT MDGA2 MGLL MRC1 NAGLU NEIL1 NT5E OGA OGG1 PAFAH1B1 PARP1 PDHA1 PDIA3 PGK1 PGP PIGC PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G1B PLA2G6 PLB1 PLD1 PLD2 PNPLA6 PRKAA2 PRNP PSAP PTEN PTGES3 PTGES PTGS2 RENBP RGMA RTN4R SARM1 SCD SHMT1 SHMT2 SI SIGLEC7 SIRT2 SLC2A4 SLC33A1 SLC39A8 SMPD1 SMPD2 SMPD3 SMUG1 SOAT1 SPTSSB ST8SIA4 STBD1 SUCLA2 SYNJ1 TALDO1 TIGAR TKT TM7SF2 TMED9 TNKS2 UGT1A9 UMOD VCAM1 XYLT2	10159 10327 10457 1056 10724 10728 10908 1103 1116 1118 11332 11343 125 126 127 1272 131 1312 132789 142 1497 151056 1543 1544 1545 1555 1557 1559 1571 1577 1586 1594 1604 161357 1634 1636 165679 1738 1800 2026 2053 217 2194 2203 2208 2215 22876 22933 23098 23205 23583 2539 2571 2572 2581 2583 2588 2597 26232 2629 2673 27036 27087 2717 2720 27306 27349 2752 283871 284348 2876 2923 3037 3073 308 3098 3099 31 3383 3425 3482 353 3897 3956 3958 3960 4051 4099 410 427 43 4360 4669 4680 48 4907 4968 50 5048 51477 51478 5160 51763 5230 5279 5287 5290 5291 5293 5294 5310 5319 5337 5338 54600 54732 55512 5563 5621 5660 56963 57103 5728 5743 57704 5973 6319 64116 64132 6470 6472 6476 65078 6517 6609 6610 6646 683 6888 6900 7086 7108 7369 7412 7903 79154 79661 79993 80270 80351 811 8398 847 8527 8630 8803 8867 8987 9197 929 9365 952 9536 960	Homo sapiens (human)
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	ACSS2 AGPAT2 AKR1A1 AKR1B10 ALOX5 ALPI ALPP ARSA CAT CD109 CD44 CEACAM5 CEACAM6 CEACAM7 CYP1A1 CYP1A2 DCTD DPEP1 GAPDH GPC1 HMMR HPGDS HPSE ICAM1 IL1RAP IL1RL1 KL L1CAM LGALS3 LGALS4 MRC1 MSLN MTAP NTHL1 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLPP5 PNP PTEN PTGS2 SDC1 SDC2 SDHB SELL SFTPD SMUG1 ST3GAL3 ST3GAL4 STS THEM4 TM7SF2 UGT1A7	10232 10327 1048 10555 10855 1087 117145 135228 1543 1544 1635 1800 23583 23659 240 248 250 2597 27306 2817 3161 3383 3556 3897 3958 3960 410 412 4360 4507 4680 4860 4913 5290 5291 5293 5294 54577 55902 57016 5728 5743 6382 6383 6390 6402 6441 6484 6487 7108 8050 84513 847 9173 9365 960	Homo sapiens (human)
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	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:3905	lung carcinoma Aliases: cancer of lung	ABO ACACA ACAT1 ACE ACLY ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSM1 ACYP2 ADH1B ADH1C ADH5 AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALDH1A3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALOX12B ALOX15 ALOX15B ALPI ALPP AMACR AMY1A AMY1B AMY1C AMY2A AMY2B ANXA4 ANXA5 APRT ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 B3GNTL1 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 CHODL CHPT1 CHST7 CLEC10A CNTN1 COG8 COMT CRLS1 CRYBG3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 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 FOLR1 FOLR2 FUT10 FUT11 FUT1 FUT2 FUT3 FUT4 FUT5 FUT7 FUT8 FUT9 G6PD GAD1 GALC GALK2 GALNS GALNT13 GALNT3 GAPDH GBE1 GCK GCNT1 GGT1 GLB1 GLCE GLDC GOLPH3 GPC3 GPC5 GPI GPX1 GPX2 GPX3 GUSB HADHA HAS2 HK1 HK2 HKDC1 HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B1 HSD17B6 HSPG2 HYAL2 ICAM1 ICAM2 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1RL1 IMPA1 INPP4B INPP5D ISYNA1 ITPKA ITPKB KL KLRB1 KLRK1 L1CAM LAYN LDHA LDHB LGALS1 LGALS3 LGALS8 LGALS9 LPCAT1 LPIN1 LPL LY6K LYNX1 LYPD5 MBD4 MBL2 MCAT ME1 MGLL MICA MMUT MOGS MPG MRC1 MSLN MTAP MTMR3 MUTYH NCAM1 NEIL2 NEU1 NT5E NTHL1 OGA OGG1 OPCML PAFAH1B1 PARG PARP1 PC PCK2 PCYT1A PFKFB3 PFKFB4 PGAM1 PGD PGK1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCD1 PLCE1 PLCG1 PLCH1 PLOD3 PLPP4 PLPP5 PNPLA2 POFUT1 PRG2 PRKAA2 PRNP PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RECK REG1B REG3G RENBP RGN RPN2 SCD SDC1 SDC2 SDHC SELE SELP SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT1 SHMT2 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A3 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SULF1 SULF2 SULT1E1 SYNJ2 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 YDJC	100507436 100861540 1012 10159 10232 10327 10462 1048 10682 10690 10724 10855 1087 1103 1116 11181 1119 1120 11332 11343 114805 116285 117145 125 126 1272 128 130120 1312 131544 135228 140578 142 143903 1462 146456 146712 150223 151056 152002 1543 1544 1545 1551 1555 1557 1559 1571 1576 1577 1586 1588 1589 1591 1593 1594 1604 160851 1634 1636 1645 1650 170384 1718 1738 1890 1942 196051 2023 2026 2027 2053 2137 217 218 2180 2181 2182 2194 220 2203 2220 2222 226 2262 22914 22933 23007 231 23175 23205 23213 23409 2348 2350 23509 23583 23600 242 246 247 248 250 2523 2524 2525 2526 2527 2529 252969 2530 253782 2539 2571 2581 2585 2588 2591 259230 2597 26033 26035 2632 2645 2650 2678 2683 27087 2719 2720 27248 27294 27306 2731 27349 276 277 278 279 28 280 2821 283871 284348 2876 2877 2878 2990 3030 3037 307 308 3098 3099 31 3251 3291 3292 3339 3383 3384 3417 3418 3423 3425 3482 353 3612 3635 3706 3707 38 3820 3897 3939 3945 3956 3958 3964 3965 3992 4023 4051 410 412 4153 4199 427 4350 4360 4507 4594 4595 4680 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 5130 51477 51548 5167 5168 51703 5209 5210 5223 5226 5230 5290 5291 5293 5294 5310 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 5740 5742 5743 5968 5973 6185 6319 6382 6383 6391 6401 6403 64083 6440 6441 6470 6472 6480 6489 6515 6523 653509 66004 6646 670 6713 6783 683 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 8871 8877 8897 8930 8985 9104 912 9126 9173 9197 9254 929 933 9365 9415 945 952 9536 960 972 98 9956	Homo sapiens (human)
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	ENPP1	5167	Homo sapiens (human)
DOID:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	Homo sapiens (human)
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)
DOID:0060127	gamma heavy chain disease Aliases: Franklin's disease	ASAH2	56624	Homo sapiens (human)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 ANXA5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI GPX3 HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 MRC1 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 RBP4 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 2878 308 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 4360 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 5950 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)
DOID:11335	sarcoidosis Aliases: Boeck sarcoid lymphogranulomatosis	ACE CALR CAT CD14 CD55 CEL CHI3L1 CHIT1 CYP21A2 CYP27B1 EPHX2 FCGR3B FCN3 IL18R1 LGALS1 LYZ MANBA MASP2 MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTGS2 RECK SELE SFTPD SLC27A5 SMUG1 SOAT1 ST8SIA4 VTCN1	1056 10747 10998 1116 1118 151056 1589 1594 1604 1636 2053 2215 23583 3956 4069 4126 4360 4684 5290 5291 5293 5294 5743 6401 6441 6646 7903 79679 811 83666 8434 847 8547 8809 929	Homo sapiens (human)
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	CYP19A1 LRP5	1588 4041	Homo sapiens (human)
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL G6PC1 GAA GBE1 GYS2 PYGL	178 2538 2548 2632 2998 5836	Homo sapiens (human)
DOID:3113	papillary carcinoma	ASAH1 B3GAT1 CD44 CYP1A1 ENO2 FUT4 FUT8 GPC3 GPLD1 HPSE HSPG2 IDH2 LGALS1 LGALS3 NCAM1 NEU1 PIGU PIK3CA PTEN PTGS1 PTGS2 SDC2 SLC2A3 SMUG1 VTCN1	10855 128869 1543 2026 23583 2526 2530 27087 2719 2822 3339 3418 3956 3958 427 4684 4758 5290 5728 5742 5743 6383 6515 79679 960	Homo sapiens (human)
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)
DOID:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:9063	Ritter's disease Aliases: Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type	EXT1	2131	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)

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