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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 **5026 - 5050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)
DOID:1247	blood coagulation disease Aliases: coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery	ACOT7 AKR1D1 ALDOB AMACR ARSA BAAT CAT CD14 CLEC1B COG4 COG6 CYP7B1 DDOST ENO1 ENPP2 G6PC1 GALT GOLPH3 HPSE HSD3B7 LGALS3 LMAN1 MCFD2 MPI NAAA PC PIGA PIK3CA PLA2G4A PLB1 PTGS1 RFT1 SDC1 SELP TMTC3	10855 11332 151056 160418 1650 2023 229 23600 2538 25839 2592 27163 3958 3998 410 4351 5091 51266 5168 5277 5290 5321 570 5742 57511 6382 6403 64083 6718 80270 847 90411 91869 929 9420	Homo sapiens (human)
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)
DOID:0060261	congenital ptosis	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0060714	autosomal recessive congenital ichthyosis 5 Aliases: ARCI5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis	ALDH3A2 ALOX12B CERS3 COG7 CYP2B6 GBA1 STS SULT2B1	1555 204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:7007	childhood cerebral astrocytoma Aliases: pediatric astrocytoma of Cerebrum	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:14228	oligospermia	ANXA5 CYP17A1 CYP2R1 EPHX2 HPGDS LCT LDHC PARP1 PGAM1 PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1586 2053 27306 308 3938 3948 412 5223 5552 5634 6716 83639	Homo sapiens (human)
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	ABO ACE ACSL5 ACSS2 ADH7 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALOX5 ANXA5 APRT ATP6AP2 BAAT BRAF BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENO2 ENOSF1 EPM2A EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI GSK3B HAS1 HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 OVGP1 PARP1 PDIA3 PGAM2 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS1 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIGLEC1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TFF1 TMTC1 TNFRSF10C TNKS2 TP53 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 2026 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 2932 3036 308 3161 3283 3284 3292 3294 3295 3373 3417 3482 353 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 5016 51363 51478 51548 51703 5224 5230 5290 5291 5293 5294 5315 5319 5320 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 5728 5742 5743 6319 6382 6390 6391 6392 64083 6515 6517 6614 6646 6677 6716 673 6783 6820 684 7031 7157 7364 7367 79154 7957 79679 79947 80142 80351 811 8372 83857 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency Aliases: 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency	HSD17B3	3293	Homo sapiens (human)
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	POMK	84197	Homo sapiens (human)
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	ARSA ASAH1 CHIT1 DEGS1 EBP GALC GLB1 IDUA IGF2R PLA2G1B PLB1 PSAP	10682 1118 151056 2581 2720 3425 3482 410 427 5319 5660 8560	Homo sapiens (human)
DOID:1849	cannabis dependence	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)
DOID:5504	tanycytic ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	ADH1B ALDH2 IGF2	125 217 3481	Homo sapiens (human)
DOID:1561	cognitive disorder Aliases: cognitive disease	ACHE CD14 CD38 COMT IGF2R SMUG1	1312 23583 3482 43 929 952	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)
DOID:0050787	juvenile polyposis syndrome	MBL2 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SMUG1	23583 4153 4595 5290 5291 5293 5294 5728 5743	Homo sapiens (human)
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NR1D1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPARGC1A PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 10891 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370 9572	Homo sapiens (human)
DOID:116	pericardium cancer Aliases: Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium	CYP1A2	1544	Homo sapiens (human)
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:0050855	renal fibrosis	ACE CYP2J2 LEPR PPARGC1A TLR2 TLR4	10891 1573 1636 3953 7097 7099	Homo sapiens (human)

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