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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 **3976 - 4000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080187	chronic neutrophilic leukemia	CALR CEL SOAT1	1056 6646 811	Homo sapiens (human)	DisGeNET
DOID:483	cavernous hemangioma Aliases: Cavernoma Cavernous haemangioma	ACE ATP6AP2 ATP6V1A C1GALT1C1 CALR CD14 CTSA CYP1B1 DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHC SDHD SRD5A3	10082 10159 10908 1545 1636 2619 29071 3294 3417 3418 3482 4099 4534 523 5281 5290 5291 5293 5294 5310 5476 57104 5728 6391 6392 64419 79158 79644 811 8809 8813 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060288	omodysplasia	CD44 GPC6	10082 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10138	xerophthalmia Aliases: Conjunctival xerosis	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1	1636 27159 27306 3383 38 3931 3958 4351 5067 5730 5743 6441 64834 6646 6785 9104	Homo sapiens (human)	DisGeNET
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	SDC2	6383	Homo sapiens (human)	DisGeNET
DOID:4257	Caffey disease Aliases: cortical congenital hyperostosis infantile cortical hyperostosis	A4GALT	53947	Homo sapiens (human)	DisGeNET
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)	DisGeNET
DOID:11204	allergic conjunctivitis	CHIA ICAM1 LGALS3 PLA2G2A TLR4	27159 3383 3958 5320 7099	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 ME1 MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 UGT2B7 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1584 1585 1586 1591 1594 1605 1634 1636 170384 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2739 28 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4199 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 6646 6652 684 7108 729920 7364 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)	DisGeNET
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:431	myofascial pain syndrome	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ACE ADH1A ADH5 AKR1D1 ALDH1B1 ALG8 ALPP AMACR ATRNL1 BAAT CAT CD14 CD44 CHIT1 COG6 CYP17A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP7A1 CYP7B1 CYP8B1 DCN DGAT2 DLAT ERLEC1 FH G6PD GGT1 HADHA HADHB HAO2 HJV HOGA1 HSD17B4 HSD3B7 ICAM1 LIPA LYZ MBOAT1 NPL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PRKAA1 PRKAA2 PTGDS PYGM SLC17A5 SULT1E1 SULT2B1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B4 VCAM1	1118 112817 124 128 148738 154141 1544 1555 1557 1559 1576 1577 1581 1582 1586 1593 1634 1636 1737 219 2271 23600 250 2539 26033 26503 2678 27248 3030 3032 3295 3383 3988 4069 51179 5290 5291 5293 5294 5319 5320 54575 54576 54577 54578 54657 54658 54659 5562 5563 570 5730 57511 5837 6718 6783 6820 7363 7412 79053 80270 80896 8398 84649 847 929 9420 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ACE ACHE ANXA5 ASAH1 CHI3L1 COMT CYP2B6 DLD ENO2 EPHX2 GBA1 IGF2 IGF2R IMPA1 LGALS3 MAG MASP1 OGA PCNA PDHA1 PLA2G6 PLCG2 PRNP PTGS2 SMUG1 SUCLA2 TIGAR VCAM1	10724 1116 1312 1555 1636 1738 2026 2053 23583 2629 308 3481 3482 3612 3958 4099 427 43 5111 5160 5336 5621 5648 57103 5743 7412 8398 8803	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080512	Meier-Gorlin syndrome 1	ACHE CLEC7A COMT CYP4F3 FASN LYZ PIK3CA PIK3CG PLA2G4A PLCB1	1312 2194 23236 4051 4069 43 5290 5294 5321 64581	Homo sapiens (human)	DisGeNET
DOID:0060362	punctate palmoplantar keratoderma type III Aliases: acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3	MGAM SI	6476 8972	Homo sapiens (human)	DisGeNET
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	ACOT7 B4GALT7 GPX3 HSPG2 SMUG1	11285 11332 23583 2878 3339	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABO ACADS ACE ACO1 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 AGPAT1 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDOA ALOX12B ALOX15 ALOX5 ALPI ALPP AMACR ANXA5 APRT ART1 ASAH1 B3GALT5 B3GNT6 BAD BCKDHB BPHL BRAF C1GALT1C1 CALR CAT CBR1 CBR4 CD109 CD14 CD248 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHKA CHPT1 CHST15 CHSY3 CLEC14A CLEC7A COMT CS CSPG4 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP51A1 DAG1 DCN DCTD DGKA DHCR24 DHDDS DLD DPEP1 EFNA2 ENO1 ENPP1 EPHX2 FADS1 FASN FBP1 FCGR3B FCN2 FDPS FH FOLR1 FOLR2 FUT2 FUT3 FUT4 GAD1 GAD2 GALNT14 GALNT3 GALNT5 GAPDH GCK GCNT1 GCNT3 GFPT1 GFRA1 GFRA2 GGT1 GLO1 GLUL GNE GP2 GPC1 GPC3 GPC5 GPI GPNMB GPX1 GPX2 GUSB HK2 HMMR HPGDS HPSE HS3ST2 HS3ST3B1 HSPG2 HYAL1 ICAM1 ICAM2 IDH1 IGF2R IL18R1 INPP4A INPP4B INS KL KLRK1 L1CAM LDHA LDHB LFNG LGALS1 LGALS3 LGALS4 LGALS9 LTA4H LYPD5 LYPLA1 MACROD1 MAG MCAT MDH1 ME2 ME3 MGAT4A MICA MMUT MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEU2 NT5E OGDHL OGG1 OGT OLR1 PAFAH1B2 PARG PARP10 PARP14 PARP1 PARP4 PCYT1A PDHX PFKFB3 PFKFB4 PFKM PFKP PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2B PIP5K1A PIP5K1B PKD1 PKLR PKM PLA2G15 PLA2G4A PLAUR PNLIP PNP PNPLA2 PPARD PRKAA2 PRNP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK REG3G RGN SDC1 SDC3 SELE SELP SEMA7A SFTPD SGMS1 SIRT2 SIRT4 SIRT6 SLC35F6 SLC5A1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 ST6GAL1 SULF1 SULF2 TDG TM7SF2 TNFRSF10C TP53 TUSC3 TYMP UGP2 UGT1A1 UGT1A3 UGT1A7 UGT8 ULBP2 UMPS VCAM1 VCAN VTCN1	10020 100507436 1012 10135 10232 10317 10327 10434 10457 1048 10554 1056 10855 1087 10873 1113 1116 1119 11227 11320 120227 124 125 126 127 128 130 130120 1312 135228 142 143 1431 1462 1464 1543 1544 1545 1555 1557 1576 1586 1591 1595 1605 1606 161198 1634 1635 1636 1718 1738 1800 1890 192134 1943 2023 2053 207 217 219 2194 220 2203 2215 2220 2224 226 2262 2271 22914 22933 231 23213 23409 2348 2350 23583 23600 23659 240 242 246 248 250 2524 2525 2526 2571 2572 2591 259230 2597 2645 2650 2673 2674 2675 2678 2719 27306 27349 2739 2752 28 2813 2817 2821 284348 2876 2877 28992 29071 2990 308 3099 3161 3339 3373 337876 3383 3384 3417 3482 35 353 3630 3631 3897 3939 3945 3955 3956 3958 3960 3965 3992 4048 4099 417 4190 4200 427 4360 4507 4594 4595 4680 4684 4759 48 4860 4907 4968 4973 5049 51146 5130 51363 51548 5167 5209 5210 5213 5214 5230 5290 5291 5293 5294 5310 5313 5315 5321 5329 5406 54577 54625 54658 54659 5467 54978 5563 55753 55902 55959 5621 56848 56994 57016 57104 57124 5716 572 57214 5728 5742 5743 594 6382 6401 6403 6441 64581 6480 6484 6523 6646 670 673 6996 7108 7157 7360 7368 7372 7412 79623 79679 7991 79947 80328 8050 811 8394 8395 8396 8434 847 8473 8482 84869 84875 8505 873 8794 8809 8821 8877 9104 9245 929 9365 9536 960 9672 972 9953 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080587	congenital myasthenic syndrome 22	SLC3A1	6519	Homo sapiens (human)	DisGeNET
DOID:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	ACADVL ACE ADRB3 BDH1 CHKB CPT2 CYP11B2 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 TNF	100507436 10135 1120 1376 148738 155 1585 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 7124 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111387	familial isolated hypoparathyroidism Aliases: FIH	AGA	175	Homo sapiens (human)	DisGeNET
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	ABO ACSBG1 AMACR ANXA5 APRT CALR CAT CD109 CD22 CD38 CD44 CD74 CDH13 CDS1 CYP17A1 CYP1A1 CYP24A1 EFNA5 ENO2 FASN FBP1 FCGR3B GAPDH GBA1 GPI GPX1 HK2 HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAPL1 INPP5D KDSR KL LGALS16 LGALS1 LGALS3 LPL LY6K LYPD5 MASP2 MCAT MTAP NCAM1 NT5E OGT PARP14 PARP1 PARP9 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PRKAA2 PTEN PTGS2 SDC1 SELL SMUG1 SOAT1 SPHK1 STS TP53 UGCG UMOD VTCN1	1012 1040 10747 11141 135228 142 148003 1543 1586 1591 1946 2026 2194 2203 2215 23205 23583 23600 2531 2597 2629 27306 27349 28 2821 284348 2876 308 3099 3161 3383 3417 3418 353 3635 3956 3958 4023 412 4507 4684 4907 5130 5290 5291 5293 5294 5336 54625 54742 5563 5728 5743 6382 6402 6646 7157 7357 7369 79679 811 83666 847 8473 8877 933 9365 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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