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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3976 - 4000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	Sdha	157074	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Abcb1b Abcc2 Abcc3 Abcg5 Abcg8 Acaca Acacb Acadm Acadvl Actb Adamts13 Adipoq Adrb3 Ahcy Ahcyl Akt1 Aldh2 Atp5f1a Azgp1 Ccl2 Cd163 Col1a1 Dgat2 Ezh2 Fasn Foxo1 Fto G6pd2 G6pdx Gpt Gsr Hadha Hfe Hmgcr Hp Ifna11 Ifna12 Ifna13 Ifna16 Ifna1 Ifna4 Ifna9 Igf1r Igfbp7 Il10 Il13 Il1rn Insr Irs1 Irs2 Krt18 Lep Lepr Lpl Mlxipl Mlycd Nampt Nfe2l2 Pla2g7 Plin1 Plin2 Plin3 Pnpla3 Pon2 Ppargc1a Sidt2 Sirt2 Sirt4 Sirt6 Slc7a3 Sod2 Srebf1 Stat3 Tfrc Tg Tlr4 Tlr9 Tnf Ubr2 Ucp2	100705 103968 107476 11364 11370 11450 11461 11520 11556 11615 11651 11669 116939 11946 11989 12007 12780 12842 14056 14104 14380 14381 14782 15216 15357 15439 15962 15964 15967 15972 16001 16153 16163 16181 16337 16367 16668 16846 16847 16956 18024 18669 19017 20296 20656 20787 20848 214597 21819 21898 21926 22042 22228 224826 230396 230398 242519 26383 269378 27226 27409 279028 29817 330260 384783 50721 56458 56690 58805 59027 64383 66905 67470 67800 75387 76282 76408 81897 93671 97212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	abts-4	180943	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt.L notch1.S	394367 443983	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	drag-1	190602	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	Evc Gata4 Igf2 Mmp9 Sall4 Tbx20	14463 16002 17395 57246 59056 99377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4677	keratitis	Tl	43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ABCA12 CST6 PIGA PRSS8	1474 26154 5277 5652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070357	nephrotic syndrome type 20	Tbc1d9 Tbc1d9b	71310 76795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110358	retinitis pigmentosa 12 Aliases: RP12	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	CCM2 CDC42 CDC42BPA CDC42BPB CDC42BPG FLT1 KDR PIK3CA PON1 PTEN RNF213 STK24	2321 3791 5290 5444 55561 5728 57674 83605 8428 8476 9578 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081203	autosomal recessive intellectual developmental disorder 38	HERC2	8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	MAST1	22983	Homo sapiens (human)	Alliance of Genome Resources
DOID:9588	encephalitis	Il1rn Mbp Rela Tnf	16181 17196 19697 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	367562	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ACVR2A CA12 CA9 E2F4 KRAS MARCKS MLH1 MRE11 MSH2 MSH6 PMS1 RNASEL RNASET2 SLC22A9 SMAD4 TCF4 TGFBR1 TGFBR2	114571 1874 2956 3845 4082 4089 4292 4361 4436 5378 6041 6925 7046 7048 768 771 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	Pomt2	688673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	Btk Lrrc8a	12229 241296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA	175	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1389	polyneuropathy	APOA4 FCGR3A HLA-DRB1 IL6 SERPINE1 SOD2 SOD3	2214 3123 337 3569 5054 6648 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	Sdhc	66052	Mus musculus (house mouse)	Alliance of Genome Resources

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