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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 **8976 - 9000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	Gabrd	29689	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	25664 361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	Mdr49 Mdr65 shf	31617 36428 38726	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:4989	pancreatitis	smo	30225	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050153	pulmonary aspergilloma	PTX3	5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	Ccr5	12774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112215	developmental and epileptic encephalopathy 79 Aliases: DEE79 early infantile epileptic encephalopathy 79	Gabra5	110886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	Slc17a8 Trpv4	216227 63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	MYOC	4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	Ankrd11	77087	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:302	substance abuse	Adra2a Drd4 Htr1a Htr1b Slc6a4	11551 13491 15550 15551 15567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	Hccs	15159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	Mmp9	81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	Pigs	276846	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Abcb11 Abcb1a Abcb1b Abcb4 Abcb5 Adrb1 Adrb2 Adrb3 Ager Ccl11 Ccl2 Cd14 Cd40lg Cftr Clca1 Clcn2 Csf3r Cxcl9 Cxcr3 Cyp1a1 Edem1 Fas Fasl Fcgr2b Fcgr3 Gclc H2-D1 H2-K1 H2-M2 H2-M3 H2-Q10 H2-Q1 H2-Q2 H2-Q6 H2-Q7 Havcr2 Hc Hfe Hspa1a Hspd1 Igfbp3 Il13 Il17a Il18bp Il1a Il1rn Il9 Il9r Lep Lta Mbl2 Mmp9 Mpo Muc1 Muc5ac Muc5b Nos3 Ppara Ptgdr2 Ptgs2 Ptx3 Scnn1b Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Sftpb Sftpd Tgfb1 Timp1 Tlr4 Tlr5 Tlr9 Tnf	110557 11554 11555 11556 11596 12475 12638 12724 12766 12986 13076 14102 14103 14130 14131 14629 14764 14964 14972 14990 14991 15006 15007 15013 15018 15139 15216 15510 16009 16068 16163 16171 16175 16181 16198 16199 16625 16846 16992 171285 17195 17329 17395 17523 17829 17833 18127 18669 18670 18671 19013 192193 19225 19288 193740 20277 20292 20296 20388 20390 20714 20716 20717 21803 21857 21898 21926 21947 238393 238395 23844 271047 27413 53791 74069 74180 77706 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI	4351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060793	hypomyelinating leukodystrophy 5 Aliases: HLD5 hypomyelination-congenital cataract syndrome	Hycc1 Hycc2	213056 84652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110430	dilated cardiomyopathy 1G Aliases: CMD1G	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	Atp5f1a	11946	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	Ogg1 Stat3	18294 20848	Mus musculus (house mouse)	Alliance of Genome Resources

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