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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 **4326 - 4350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ACE ACSL1 AGK AKR1B10 APRT CACNA2D2 CALR CANX CAT CD44 CEACAM5 CYP1A1 CYP2B6 CYP2E1 EXT1 HACD1 HPGDS HPSE HS3ST2 KLRD1 KLRK1 LGALS3 LGALS9 LIPA LPIN1 MASP2 MBL2 MICA MMUT MPG MUTYH OGG1 PARP1 PDIA3 PIK3CA PLAUR PTEN PTGS2 SDHD SMUG1 ST6GALNAC5 ST8SIA4 STS SULF1 VTCN1	100507436 1048 10747 10855 142 1543 1555 1571 1636 2131 2180 22914 23175 23213 23583 27306 2923 353 3824 3958 3965 3988 412 4153 4350 4594 4595 4968 5290 5329 55750 57016 5728 5743 6392 7903 79679 811 81849 821 847 9200 9254 960 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1209	nutritional optic neuropathy	ACE ACO2 AKR1B1 PRPS1 PTEN	1636 231 50 5631 5728	Homo sapiens (human)	DisGeNET
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	CD38	952	Homo sapiens (human)	DisGeNET
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050760	X-linked myopathy with excessive autophagy Aliases: XMEA	GNE PYGM	10020 5837	Homo sapiens (human)	DisGeNET
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060425	chromosome 8q21.11 deletion syndrome Aliases: 8q21.11 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090104	Huntington's disease-like 2 Aliases: HDL2 Huntington disease-like 2	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPT1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UGT1A1	10558 10715 10858 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2882 2997 3417 3425 353 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)	DisGeNET
DOID:7689	leptomeninges sarcoma Aliases: Leptomeningeal sarcoma sarcoma of Leptomeninges	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE ACO2 ALOX5 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 BAD CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL18R1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 MBL2 MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PRKAA2 PTEN PTGS2 SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIRT6 SLC27A5 SMUG1 SOAT1 SPHK2 SULF1 SULF2 TM7SF2 TNF VCAM1 VCAN	10159 1056 10825 10998 1103 1116 1118 1462 1594 1634 1636 2194 2215 23213 2350 23556 23583 240 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 4153 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 572 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 7124 729238 7412 79071 83666 847 8482 8809 8879 9173 9365 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)	DisGeNET
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080148	T-cell childhood lymphoblastic lymphoma Aliases: Childhood T lymphoblastic lymphoma	CD33 ICAM1	3383 945	Homo sapiens (human)	DisGeNET
DOID:13252	mesenteric vascular occlusion	ICAM1	3383	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	DGAT1 UGT1A1	54658 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5223	infertility	ABO ACOT7 BAAT CD14 CD44 CYP17A1 EFNA5 GBA2 H6PD HJV HSD17B1 HSD17B3 KL PLCB1 PLCZ1	11332 148738 1586 1946 23236 28 3292 3293 570 57704 89869 929 9365 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	ACE ACSS2 ADIPOQ ITPKC MBL2 MICA PLA2G15 PLCB1 PLCB4 SRGN SULT1E1	100507436 1636 23236 23659 4153 5332 5552 55902 6783 80271 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	ANXA5 CYP11A1 CYP17A1 CYP19A1 CYP2R1 EPHX2 GAPDH HPGDS HSD3B2 LCT LDHC PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1583 1586 1588 2053 2597 27306 308 3284 3938 3948 412 5223 5290 5291 5293 5294 5552 5634 6716 83639	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0080159	Cryptococcal meningitis	CYP51A1 MBL2	1595 4153	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1 B4GALT7	11285 2683	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources

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