GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5251 - 5275** of **7942** in total

« First

‹ Prev

…

207

208

209

210

211

212

213

214

215

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:12904	mucocele of salivary gland Aliases: Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele	NT5E	4907	Homo sapiens (human)
DOID:10930	borderline personality disorder	ACE CACNA2D4 COMT DBT DGKH ETNPPL FADS1 G6PD GAD1 GAD2 GPC1 IMPA2 LDHA LMAN2L MCAT MPPE1 PLCG1 SYNJ1	1312 160851 1629 1636 2539 2571 2572 27349 2817 3613 3939 3992 5335 64850 65258 81562 8867 93589	Homo sapiens (human)
DOID:302	substance abuse	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)
DOID:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	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)
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	GLB1 SMPD1	2720 6609	Homo sapiens (human)
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 DAG1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 1605 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)
DOID:4647	trilateral retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)
DOID:12889	Miller Fisher syndrome Aliases: Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome	CNTN1 CSGALNACT1 ENO2 FCGR3B GALE GLO1 HPRT1 ICAM1 ISYNA1 MBL2 MRC1 PLB1 PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 27036 27090 27180 2739 3251 3383 4153 4360 51477 55512 55790 5742 5743 6610	Homo sapiens (human)
DOID:4223	pyoderma	GALNS	2588	Homo sapiens (human)
DOID:4271	microsporidiosis Aliases: Infection by Microspora Infection by Microsporea Infection by Microsporida	TPI1	7167	Homo sapiens (human)
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	ACE CD55 CH25H CYP27B1 CYP7A1 FUT4 GPC5 PIK3CA PIK3CB PIK3CD PIK3CG RGMA SDC1	1581 1594 1604 1636 2262 2526 5290 5291 5293 5294 56963 6382 9023	Homo sapiens (human)
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6PD GPI HK1 PKLR TPI1	2539 2821 3098 5313 7167	Homo sapiens (human)
DOID:10324	anthracosilicosis	ACAN ACE CAT CD44 CHI3L1 CPM CYP2E1 GAD1 GGT1 HPGDS HS3ST6 IL18R1 MBL2 MSLN OGG1 PTEN PTGS2 SDC2 SELE SELL SFTPD TM7SF2 UGT8	10232 1116 1368 1571 1636 176 2571 2678 27306 4153 4968 5728 5743 6383 6401 6402 6441 64711 7108 7368 847 8809 960	Homo sapiens (human)
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	AGPAT2 ASAH1 GCK INS PDHX SLC2A2	10555 2645 3630 427 6514 8050	Homo sapiens (human)
DOID:12384	dysentery Aliases: Infectious diarrhea	ACOT7 APRT IL18R1 LCT LYZ SULT1E1	11332 353 3938 4069 6783 8809	Homo sapiens (human)
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)
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements