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 **2426 - 2450** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	ALG13 ALG2 AMACR ARSG B3GALNT2 B3GLCT B4GAT1 CA4 CACNA2D4 CD109 CLC CLN5 CYP1B1 CYP2U1 DHDDS EFNA5 ELOVL4 ENPP1 EPHX2 EPM2A FASN FH FKRP FKTN GALC GM2A GMPPA GMPPB GPAA1 HADHA HEXA HEXB HGSNAT HK1 HS6ST1 HSD17B4 HSPG2 IDH3A IDH3B IDUA INPP5E LARGE1 LCAT LSS MASP1 MECR MPDU1 MPI OCRL PCYT1A PGK1 PIGT PLA2G6 PMM2 PNPLA6 PNPLA7 POMGNT1 POMK POMT1 POMT2 PPT1 PRNP PRPS1 RFT1 RPE SDHA SDHB SDHD SMUG1 SRD5A3 ST3GAL5 SUCLA2 SUMF1 SYNJ1 VCAN XYLT2	10585 10908 11041 113612 1178 1203 135228 138050 145173 1462 148789 1545 1946 2053 2194 2218 2271 22901 23583 23600 2581 2760 285362 29925 29926 29954 3030 3073 3074 3098 3295 3339 3419 3420 3425 375775 3931 4047 4351 4952 51102 5130 51604 5167 5230 5373 5538 55624 5621 5631 5648 56623 6120 6389 6390 6392 64132 6785 762 79147 7957 79644 79868 79947 8398 84197 85365 8733 8803 8867 8869 91869 9215 93589 9394 9526	Homo sapiens (human)
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	ALG12	79087	Homo sapiens (human)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	ALG12 DPM1 PMM2	5373 79087 8813	Homo sapiens (human)
DOID:5327	retinal detachment	ALG12 B3GALNT2 B4GAT1 CHI3L1 CHST14 COL9A2 CRPPA CYP1B1 DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RPE RXYLT1 TNF XYLT2	10329 10585 11041 1116 113189 1298 148789 1545 1605 2218 29925 29954 55624 5728 6120 64132 7124 729920 79087 79147 84197 84892 9215	Homo sapiens (human)
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG12 ALG13 ALG3 ALG8 COG6 COG8 DPAGT1 EXT2 ICAM1 MPI PMM2 RFT1 SLC35A2 ST3GAL5 TMEM199	10195 147007 1798 2132 3383 4351 5373 57511 7355 79053 79087 79868 84342 8869 91869	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	440138	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:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)
DOID:13197	nodular goiter Aliases: Goiter, nodular nodular goitre	ALG1 CYP24A1 LGALS3 MINPP1 TPI1	1591 3958 56052 7167 9562	Homo sapiens (human)
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	ALG1 CD74 CYP17A1 CYP1A1 DCN DHCR24 GOLPH3 PIK3CA PTEN STS	1543 1586 1634 1718 412 5290 56052 5728 64083 972	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 CD44 PARG PARP1	142 230 468 8505 960	Homo sapiens (human)
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB KHK	229 3795	Homo sapiens (human)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)
DOID:14219	renal tubular acidosis	ALDOB ATP6V0A2 CANX CPT1A CYP11B1 CYP11B2 CYP24A1 OCRL PC PFKM PFKP	1374 1584 1585 1591 229 23545 4952 5091 5213 5214 821	Homo sapiens (human)
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	ALDOA APRT CD44 CEACAM5 CYP1A1 DLAT ENPP1 ENPP3 HK2 IDH2 MGAT5 MSLN PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2	10232 1048 1543 1737 226 3099 3418 353 4249 5167 5169 5290 5291 5293 5294 5728 5743 960	Homo sapiens (human)
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)

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