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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 **5351 - 5375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	ELOVL4 KDSR	2531 6785	Homo sapiens (human)
DOID:0060425	chromosome 8q21.11 deletion syndrome Aliases: 8q21.11 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:4784	immune-complex glomerulonephritis Aliases: Immune Complex Glomerulonephritis	LGALS9	3965	Homo sapiens (human)
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	ACE ADIPOQ AKR1A1 AKR1B1 ATP6AP2 CAT CD44 CPM DPEP1 ENO2 ENPP2 HPSE ICAM1 LGALS1 PLA2G7 PNPLA2 RBP4 RPE SDC1 SELP SORD VCAM1	10159 10327 10855 1368 1636 1800 2026 231 3383 3956 5168 57104 5950 6120 6382 6403 6652 7412 7941 847 9370 960	Homo sapiens (human)
DOID:0110246	cataract 26 multiple types Aliases: CTRCT26	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:5614	eye disease	ARSI B3GLCT CA4 CACNA2D4 CDS1 CDS2 CLN5 COL9A2 CYP1B1 CYP27A1 CYP2C19 CYP2C9 DGKG ELOVL4 ENO1 ENO2 FREM1 ICAM1 IDH3B LDHA NYX PARP1 PIK3CD PLA2G5 PNPLA2 PPT1 RPE SCD SRD5A3 SULT1E1 TLR2 TLR4 TNF VCAN	1040 1203 1298 142 145173 1462 1545 1557 1559 158326 1593 1608 2023 2026 3383 340075 3420 3939 5293 5322 5538 57104 60506 6120 6319 6783 6785 7097 7099 7124 762 79644 8760 93589	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	ABO ACOT7 CD177 CD38 CD55 CHIT1 CHPT1 COL9A2 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 G6PD H6PD HACD1 HJV HK1 HPGDS LPCAT3 NAAA OGA PC PGD PKD1 PKLR SCD SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS VCAM1	10162 10724 1118 11332 1298 1374 1376 148738 1571 1576 1604 2539 27163 27306 28 3098 5091 51084 5226 5310 5313 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6319 7124 7355 7358 7372 7412 9200 952 9563	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)
DOID:0110124	Bardet-Biedl syndrome 2 Aliases: BBS2	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:11554	Chandler syndrome Aliases: Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:0060578	Noonan syndrome 1 Aliases: NS1	ACADS ACHE AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GBE1 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 2632 2653 2720 2731 275 2821 3339 35 410 412 414 43 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0110240	cataract 20 multiple types Aliases: CTRCT20	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:4897	bile duct carcinoma	ACE AKR1A1 AKR1B10 ALDH1A3 ALDOA ALOX15 ALOX5 ANXA4 ANXA5 APRT CAT CBR1 CD14 CD44 CEACAM5 CEACAM6 CEACAM7 CYP19A1 CYP1A1 CYP1A2 CYP24A1 CYP27B1 DLAT ENO1 ENPP1 ENPP3 FBP1 FCGR3B FUT1 FUT2 FUT3 GALNS GGT1 GLUL GPC1 GPC3 HK2 HPSE IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 MGAT5 MRC1 MSLN MUTYH NCAM1 NEIL1 NEU1 NT5E OGG1 OPCML PARP1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PKM PLA2G4A PSMD10 PTEN PTGES PTGS2 RECK SDC1 SIRT2 SMUG1 SPHK1 SPHK2 STS UGT1A10 UMPS VTCN1	10232 10327 1048 10855 1087 142 1543 1544 1588 1591 1594 1636 1737 2023 220 2203 2215 226 22914 22933 23583 240 246 2523 2524 2525 2588 2678 2719 2752 2817 307 308 3099 3417 3418 3482 353 3897 3939 3956 3958 3965 412 4249 4360 4595 4680 4684 4758 4907 4968 4978 5160 5167 5169 5290 5291 5293 5294 5311 5315 5321 54575 56848 57016 5716 5728 5743 6382 7372 79661 79679 8434 847 873 8877 929 9536 960	Homo sapiens (human)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:0050570	congenital disorder of glycosylation type I	ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ATP6V0A2 COG1 COG4 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAN1A1 MAN1B1 MOGS MPDU1 MPI OGA PGM1 PMM1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 STT3A	10195 10724 11253 1650 1798 22845 23545 25839 29880 29929 3703 4121 4351 440138 5236 5372 5373 54344 56052 64116 644974 7355 7841 79053 79087 79644 79796 79868 84342 85365 8813 8818 91869 9382 9526	Homo sapiens (human)
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0050873	follicular lymphoma	AKR1C4 ALOX5 ATP6AP1 CD38 CD44 CD55 CHIT1 FBP1 FCER2 FH GAPDH GBA1 GPX1 HPGDS HSD11B2 KDSR LPL MASP2 MBL2 MCAT NAMPT NCAM1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDC1 SLC35B2 SMUG1	10135 10747 1109 1118 1604 2203 2208 2271 23583 240 2531 2597 2629 27306 27349 2876 3291 347734 4023 4153 4684 4968 5290 5291 5293 5294 537 5728 6382 952 960	Homo sapiens (human)
DOID:10845	St. Louis encephalitis Aliases: Neuroinvasive St. Louis encephalitis virus infection	ACE CALR CAT CD14 CD33 CD48 FCN2 GLT1D1 LGALS1 MICA PIK3CD SELL SELP SEMA7A SGMS1 SIGLEC1 SOAT1	100507436 144423 1636 2220 259230 3956 5293 6402 6403 6614 6646 811 847 8482 929 945 962	Homo sapiens (human)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)
DOID:12337	varicocele Aliases: Scrotal varices	CAT CHPT1 DHDDS FASN HPGDS LYPD5 MGLL OGG1 PIK3CA PTEN	11343 2194 27306 284348 4968 5290 56994 5728 79947 847	Homo sapiens (human)
DOID:0060857	septooptic dysplasia Aliases: De Morsier syndrome SOD septo-optic dysplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD44 CD55 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HS6ST1 LARGE1 NSDHL NT5E PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SEMA7A STS TMTC3	10329 10585 11041 148789 1604 160418 1605 1718 1743 2218 23545 29954 412 4907 5048 50814 51227 523 55624 729920 79147 84197 8482 84892 9091 9215 9394 960 9896	Homo sapiens (human)

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