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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 **2601 - 2625** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13417	alexia Aliases: Aphemesthaesia acquired dyslexia	ARSD COMT CYP19A1 DGKI DLD EPM2A GNPTAB GNPTG NAGPA NCAN PARP1 PLA2G6 PTGES3	10728 1312 142 1463 1588 1738 414 51172 79158 7957 8398 84572 9162	Homo sapiens (human)
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:13452	scleritis	ACE TNF	1636 7124	Homo sapiens (human)
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)
DOID:13477	balanitis xerotica obliterans Aliases: Penile Lichen Sclerosus	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:13481	thanatophoric dysplasia	ACHE CD38 HSPG2 LMAN1	3339 3998 43 952	Homo sapiens (human)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)
DOID:13487	childhood disintegrative disease Aliases: Disintegrative psychosis Heller's syndrome Symbiotic psychosis	ACHE CALR COMT HPGDS	1312 27306 43 811	Homo sapiens (human)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)
DOID:13501	Moebius syndrome Aliases: Mobius syndrome Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:13507	trigonitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 847	Homo sapiens (human)
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 NTHL1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SDHC SDHD SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SORD SRD5A3 SULT1E1 TECR TGDS TKT TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4913 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6391 6392 6470 6519 6614 6652 6718 6783 7086 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:1352	paranasal sinus disease Aliases: disorder of nasal sinus	ACHE	43	Homo sapiens (human)
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:13543	hyperparathyroidism	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ABO ACOT8 AKR1B1 CYP1B1 ELOVL5 GALC GNS HK2 PTEN TLR4 TMTC2 TNF TP53	10005 1545 160335 231 2581 2799 28 3099 5728 60481 7099 7124 7157	Homo sapiens (human)
DOID:13548	secondary Parkinson disease Aliases: Symptomatic parkinsonism disorder presenting primarily with parkinsonism secondary parkinsonism	ABAT ACHE ADH1C AKR1C4 ATP6AP2 CHAT COMT CYP19A1 CYP1A2 CYP27A1 DPEP1 ENO2 GAD2 GBA1 GFRA1 GFRA2 GLB1 GLUL HPGDS LGALS1 MAG MYORG OGA PAFAH1B1 PARP1 PLA2G6 PLB1 PPT1 PRNP PTEN PTGS2 SIRT2 SMUG1 ST8SIA1 SYNJ1	10159 10724 1103 1109 126 1312 142 151056 1544 1588 1593 18 1800 2026 22933 23583 2572 2629 2674 2675 2720 27306 2752 3956 4099 43 5048 5538 5621 5728 5743 57462 6489 8398 8867	Homo sapiens (human)
DOID:13550	angle-closure glaucoma Aliases: ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1 TFAP2B	1103 1109 1545 1555 1634 4907 4968 7021 847 8818	Homo sapiens (human)
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
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)
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	CD14 CYP3A4 LYZ PCNA PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 UCP2 VCAM1	10908 1576 4069 5111 5290 5291 5293 5294 7351 7412 929	Homo sapiens (human)
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADIPOQ CBR4 CD14 CFC1 CYP7A1 ENPP2 FCGR3B GGT1 GPC1 ICAM1 MBD4 NCAM1 PCK1 PTEN SELE	1581 2215 2678 2817 3383 4684 5105 5168 55997 5728 6401 84869 8930 929 9370	Homo sapiens (human)

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