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 **4801 - 4825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	ACACA ACHE ALDH2 B3GALNT2 B4GAT1 CD38 CHKB CNTN1 CRPPA DAG1 FKRP FKTN GBE1 GMPPB HACD1 HK1 INPP5K LARGE1 MTM1 MTMR14 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAA2 RXYLT1	10329 10585 11041 1120 1272 148789 1605 217 2218 2632 29925 29954 3098 31 43 4534 51763 55624 5563 64419 729920 79147 84197 84892 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	MAG SGSH	4099 6448	Homo sapiens (human)	DisGeNET
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	KLRK1 MICA SMUG1 TLR2	100507436 22914 23583 7097	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110780	hereditary spastic paraplegia 29 Aliases: SPG29 autosomal dominant spastic paraplegia 29	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:3042	allergic contact dermatitis	ACE CD1D CNTN3 CYP1A1 ELOVL6 FCGR3B HSD11B1 MRC1 NAMPT SDC1 SELE SLC2A3 ST6GAL1 TLR4 UPP1	10135 1543 1636 2215 3290 4360 5067 6382 6401 6480 6515 7099 7378 79071 912	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1759	American histoplasmosis	ATP6V1A LGALS1	3956 523	Homo sapiens (human)	DisGeNET
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	PRKAG2 PRKAG3	51422 53632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PGM3	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)	DisGeNET
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)	DisGeNET
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2079	eccrine mixed tumor of skin Aliases: Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin	CEACAM5	1048	Homo sapiens (human)	DisGeNET
DOID:7608	parathyroid adenoma Aliases: adenoma of the Parathyroid gland	AKR1C3 CYP27B1 G6PD IDH1 IDH2 KL LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA SMUG1 VCAM1	1594 23583 2539 3417 3418 3958 5290 5291 5293 5294 5728 6389 7412 8644 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10376	amblyopia Aliases: lazy eye	B3GAT3 CHST3 COL9A2 GALC GMPPB OCRL OGT PIGN PPARGC1A XYLT2	10891 1298 23556 2581 26229 29925 4952 64132 8473 9469	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	BST1 CD14 CD1D CD38 CD48 CD55 CRLS1 ECI2 FCGR3B FUT1 FUT4 G6PD GPI HACD1 HPRT1 IDH1 KLRK1 PGAP1 PIGA PIGF PIGM PIGT PLAUR PRNP SELL	10455 1604 2215 22914 2523 2526 2539 2821 3251 3417 51604 5277 5281 5329 54675 5621 6402 683 80055 912 9200 929 93183 952 962	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5378	hemoglobin D disease Aliases: Hb-D disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)	DisGeNET
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	ACE ALDH1A3 ANXA5 APRT ARSA CALR CAT CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CNTN4 CYP17A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP39A1 CYP7A1 CYP7B1 FKTN GALNT3 GCNT2 GGT1 GPC1 GPC3 GPX3 HK2 HPGDS HPSE HSD17B7 HSPG2 IDH1 ISYNA1 LDHA MPG NT5E OGG1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLCE1 PSAP PTEN PTGS2 RBP4 SDC1 SDC2 SMUG1 SPHK1 ST8SIA4 SULT2B1 TYMP	1012 1048 10855 1087 152330 1543 1545 1555 1581 1586 1593 1636 1890 220 2218 23583 2591 2651 2678 2719 27306 2817 2878 308 3099 3339 3417 353 3939 410 4350 4680 4907 4968 5091 51196 51302 51477 51478 5230 5290 5291 5293 5294 5313 5315 5660 5728 5743 5950 6382 6383 6820 7903 811 847 8877 9420 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)	Alliance of Genome Resources
DOID:12318	granular corneal dystrophy	CHST6 LCAT	3931 4166	Homo sapiens (human)	DisGeNET
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ALPP ATRNL1 CYP27A1 CYP7A1 CYP8B1 HMGCS2 LGALS1	1581 1582 1593 250 26033 3158 3956	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9835	refractive error	B3GAT3 PCCA	26229 5095	Homo sapiens (human)	DisGeNET

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