GlyCosmos Portal

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

Displaying entries **4276 - 4300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0014667	disease of metabolism Aliases: metabolic disease	Adrb2 Dld Ephx1 Hspa8 Ins1 Ins2 Ldha Pdha1 Pdha2 Pfkl Pfkm Pfkp Pkm Ptpn11 Srebf1 Tjp2 Ythdf1 Ythdf2 Ythdf3	11555 13382 13849 15481 16333 16334 16828 18597 18598 18641 18642 18746 19247 20787 213541 21873 228994 229096 56421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	Tpp1	12751	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	Adgrg6 Mbtps1 Ptk7 Ptpn11 Slc39a8	19247 215798 56453 67547 71461	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	Slc26a5	80979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	Flrt3	71436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Abcb1b Actb Add1 Aqp4 Avp Azgp1 Cacna1a Crhbp Cxcr4 Dbn1 Dlg4 Fos Gdnf Glud1 Glul Grik5 Grin2b Grm1 Hcn1 Kcna1 Map2 Mapt Mbp Mmp9 Mtor Npy1r Npy2r Nsf Ntrk2 Pgf Ptprz1 Rasgrf1 Reln Rgma Shh Slc32a1 Slc6a1 Vdac2	11461 11518 11829 11998 12007 12286 12767 12919 13385 14281 14573 14645 14661 14809 14812 14816 15165 16485 17196 17395 17756 17762 18166 18167 18195 18212 18654 18669 19283 19417 19699 20423 22334 22348 232333 244058 56320 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060394	chromosome 15q13.3 microdeletion syndrome Aliases: 15q13.3 microdeletion syndrome	Trpm1	17364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080589	Klippel-Feil syndrome 1	Gdf6	242316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	Fgfr2	14183	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	Ace Actn2 Actn3 Actn4 Plaur	11421 11472 11474 18793 60595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080313	cleft palate-lateral synechia syndrome Aliases: CPLS syndrome syngnathia	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	Ret	19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	Fgfr1	14182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081372	lacrimoauriculodentodigital syndrome 3 Aliases: Lacrimo-auriculo-dento-digital syndrome 3	Fgf10	14165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081217	autosomal recessive intellectual developmental disorder 56	Zc3h14	75553	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	Aifm1	26926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	Idh1	15926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6pc3	68401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050605	acrodermatitis enteropathica	Slc39a4	72027	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	App	11820	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	Bbs9 Bmp15 Dis3 Fanca Mlh1 Mov10 Msh6 Npm1 Usp36	12155 14087 17350 17454 17688 18148 319845 72344 72662	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:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	Fam20a	208659	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	Ctla4 H2-Ab1 Icos	12477 14961 54167	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4617	periapical granuloma Aliases: Apical granuloma	Ccl7	20306	Mus musculus (house mouse)	Alliance of Genome Resources

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