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 **4701 - 4725** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	cs ogt ppp1cc	407879 550067 553157	Xenopus tropicalis (tropical clawed frog)
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	ABO ACACA ACADM ACADS ACAN ACAT1 ACE ACHE ACLY ACOT7 ACSL5 ACSL6 ACSS2 ADIPOQ ADRB3 AGPAT2 AKR1B1 ALDH2 ALDH7A1 ALG12 ALG9 ALOX12 ALOX15 AMACR ANXA5 APRT ARSB ARSD ATP6AP2 ATP6V1A BDH1 CALR CAT CBR3 CD14 CD44 CDS1 CDS2 CERS1 CERS5 CHGA CHI3L1 CHPT1 CNTN5 COG7 CPT1A CPT1B CPT2 CS CYP11B1 CYP11B2 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F3 DAG1 DCN DGAT1 DLD DLST EBP ELOVL6 ENO2 ENPP1 EPHX2 FADS1 FADS2 FASN FDPS FH FKRP FKTN FMOD G6PD GAD1 GAL3ST1 GALNT1 GAPDH GBA1 GBE1 GLA GLB1 GNPTAB GPD1L GUSB HADH HADHA HADHB HJV HK2 HMGCL HPGDS HSD11B1 HSPG2 HTR2A ICAM1 IDS IGF2R IL1RL1 INPPL1 ISYNA1 ITPK1 KL KLRK1 LCAT LEPR LGALS16 LGALS1 LGALS3 LIPC LPIN2 LPL LY75 LYZ MCAT MDH2 ME1 MGAT1 MMUT MPI MRC1 NAGLU NAMPT NANS NCAM1 NDUFAB1 NPL NT5E NTM OGA OGDH OGT OLR1 PAFAH1B1 PARP1 PCK1 PGK1 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLA2G2A PLA2G7 PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP3 PNPLA2 POFUT1 PPP1CC PPP1R3A PPT1 PRKAA2 PTEN PTGIS PTGS1 PTGS2 RBP4 RENBP SCD SDC1 SDC2 SDC4 SDCBP2 SDHA SDHB SDHC SDHD SELE SELP SFTPD SGPL1 SIRT6 SLC17A5 SLC26A2 SLC2A10 SLC2A4 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMPD2 SMUG1 SOAT1 SPHK1 SRGN STS SUCLA2 SULT1E1 TM7SF2 TMTC3 TNF TPI1 UCP2 UGT1A1 UGT2B7 UMOD VCAM1 XYLT1 XYLT2	10135 10159 1040 10555 10559 10682 10715 10724 1113 1116 11332 1374 1375 1376 142 1431 148003 148738 1543 1544 1545 155 1555 1557 1571 1573 1576 1577 1584 1585 1594 160418 1605 1634 1636 1738 1743 176 1836 2026 2053 217 2194 2218 2224 2271 22914 231 23171 23305 2331 23509 23583 23600 23659 239 246 2539 2571 2589 2597 2629 2632 26503 27111 2717 2720 27306 27349 28 2990 3030 3032 3033 308 3099 31 3155 3290 3339 3356 3383 34 3423 3482 35 353 3636 3705 38 3931 3953 3956 3958 3990 3992 4023 4051 4065 4069 411 412 414 4191 4199 4245 43 4351 4360 4594 4669 4684 47 4706 4907 4967 4973 501 5048 50863 5105 51196 51477 51548 5167 51703 523 5230 5281 5290 5291 5293 5294 5310 5311 5320 5333 5335 5337 5338 53942 54187 54658 5501 5506 5538 5552 5563 55902 56994 57104 5728 5740 5742 5743 5950 5973 622 6319 6382 6383 6385 6389 6390 6391 6392 6401 6403 64116 64131 64132 6441 6517 6523 6609 6610 6646 6783 7108 7124 7167 7351 7364 7369 7412 79071 79087 79147 79158 7941 79796 80896 81031 811 847 8473 8613 8694 874 8760 8803 8877 8879 91012 9173 91949 9197 929 9365 9370 9415 9514 960 9663	Homo sapiens (human)
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	ALOX12 ENPP1	239 5167	Homo sapiens (human)
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	Homo sapiens (human)
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	NYX	60506	Homo sapiens (human)
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0060777	congenital secretory sodium diarrhea 8 Aliases: DIAR8	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)
DOID:0060261	congenital ptosis	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:9649	congenital nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9254 93589 9394 94005 9420 9526	Homo sapiens (human)
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	gspd-1	178046	Caenorhabditis elegans
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	Hex-t2 Pgi PyK Zw	32974 35886 42620 43191	Drosophila melanogaster (fruit fly)
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:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6pd Gpi Hk1 Pklr	24377 24651 25058 292804	Rattus norvegicus (Norway rat)
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	HXK1 HXK2 PGI1 PYK2 ZWF1	850614 852495 852639 854529 855480	Saccharomyces cerevisiae S288C
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6pd2 G6pdx Gpi1 Hk1	14380 14381 14751 15275	Mus musculus (house mouse)
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)

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