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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 **6676 - 6700** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GAD1 GCDH	2571 2639	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	ALG5 GANAB PKD1 PKD2 PLA2G4A PTGS1 PTGS2 XYLT2	23193 29880 5310 5311 5321 5742 5743 64132	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	ACE ADH1C AKR1B10 AKR1C1 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT2 B4GALT3 BAAT CACNA2D2 CALR CAT CBR1 CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNF TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1645 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 2817 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5238 5290 5291 5293 5294 5315 5321 5563 5648 570 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7124 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8704 873 8794 8809 8821 8877 8930 9254 9365 952 960 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10272	left bundle branch hemiblock Aliases: Left bundle branch block	ACE CALR	1636 811	Homo sapiens (human)	DisGeNET
DOID:12043	kernicterus due to isoimmunization	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)	DisGeNET
DOID:10328	siderosis Aliases: pulmonary siderosis	ACAN GAD1 HS3ST6 PTGS2	176 2571 5743 64711	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5	240	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110582	autosomal dominant nonsyndromic deafness 58 Aliases: DFNA58 autosomal dominant deafness 58	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)	DisGeNET
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050526	Gamstorp-Wohlfart syndrome Aliases: autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)	DisGeNET
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	CYP19A1 HPRT1 NCAM1 TKTL1	1588 3251 4684 8277	Homo sapiens (human)	DisGeNET DisGeNET
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)	DisGeNET
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Aliases: AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome	ACACA ANXA5 CD38 DHCR7 G6PD GOLPH3 PGK1 PTEN PTGS2 SFTPC	1717 2539 308 31 5230 5728 5743 64083 6440 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2300	spondylolysis	AGA SLC26A2	175 1836	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)	DisGeNET
DOID:0070257	congenital disorder of glycosylation type IIe Aliases: CDG IIe CDG syndrome type IIe CDG2E CDGIIde COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe	COG7	91949	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:4463	multilocular clear cell renal cell carcinoma Aliases: cystadenocarcinoma of kidney renal cystadenocarcinoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)	DisGeNET
DOID:0060778	congenital diarrhea 7 with exudative enteropathy Aliases: congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy	DGAT1	8694	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)	DisGeNET
DOID:4989	pancreatitis	ABO ACE ADH1B ADH1C ADH4 ADH5 AGPAT2 AKR1A1 AKR1B10 ALDH2 AMACR AMT AMY2A BCKDHA BCKDHB CAT CD14 CD38 CEACAM5 CEL CPTP CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP2E1 DBT FCGR3B FUT2 G6PC1 GPI GPIHBP1 HMGCL HPSE HTR2A ICAM1 ISYNA1 KL LEPR LGALS3 LPL MBL2 MMUT MTAP PCCA PCCB PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLAUR PNLIP PNLIPRP2 PTEN PTGS2 QTRT1 REG1B SELE SELL SFTPD SIRT2 SLC17A5 SLC37A4 SMUG1 SPHK2 SRD5A2 ST8SIA4 SULF1 SULF2 TIGAR TLR2 TLR4 TM7SF2 UGT1A7 UMOD VCAM1	10327 1048 10555 1056 10855 125 126 127 128 1543 1545 1571 1586 1591 1629 1636 217 2215 22933 23213 23583 23600 2524 2538 2542 26503 275 279 28 2821 3155 3356 3383 338328 3953 3958 4023 4153 4507 4594 5095 5096 51477 5290 5291 5293 5294 5320 5329 5406 5408 54577 55959 56848 57016 57103 5728 5743 593 594 5968 6401 6402 6441 6716 7097 7099 7108 7369 7412 7903 7941 80772 81890 847 929 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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