GlyCosmos Portal

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

Displaying entries **14351 - 14375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	EPS8	2059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	DEPDC5	9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	Fasl Hgf Il4 Mtap Muc1 Muc4 Muc5ac	140474 14103 15234 16189 17829 17833 66902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	Abo	80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	vegfaa	30682	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2913	acute pancreatitis	CCK CD163 CX3CL1 F3 F7 IL10 KIT LEP MTNR1B REG3G SERPINA1 TREM1	130120 2152 2155 3586 3815 3952 4544 5265 54210 6376 885 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	colgalt1.L colgalt1.S	100125229 495521	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111715	Schaaf-Yang syndrome Aliases: MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG	Cyfip1	308666	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Ifng	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043 15978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060186	chemical colitis	Spn28Dc	34091	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	daf-4 sma-6	174044 175781	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	sca	36411	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8488	polyhydramnios	Lnpep	171105	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	Selenop Tnfrsf1a Ttr	24856 25625 29360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080512	Meier-Gorlin syndrome 1	SIR3	851163	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	daf-4 rnst-2	175781 190096	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4253	melorheostosis	Map2k1	26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	Ache Agtr1a Agtr1b Atf2 Bax Bche Bdnf Casp9 Cnr2 Ctsh Drd1 Elk1 F2 Fas Fasl Foxp1 Git1 Gja1 Glul Gpx1 Grin2a Grin2b Gsr Gss Hnmt Hsf1 Il6ra Itpr1 Lep Map2 Mbp Mmp9 Mtnr1a Nfe2l2 Ngfr Nog Nos3 Npy2r Pacsin1 Pacsin2 Pls3 Ppargc1a Prkaa1 Ptgs2 Qprt Sin3a Slc1a2 Ucp2 Wipi1 Wipi2	102866 105787 108655 11423 11607 11608 11909 12028 12038 12064 12371 12802 13036 13488 13712 140483 14061 14102 14103 14609 14645 14775 14782 14811 14812 14854 15499 16194 16438 16846 17196 17395 17756 17773 18024 18053 18121 18127 18167 19017 19225 20466 20511 216963 22228 23969 23970 52639 67375 74781	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	Gnai1 Gnai2 Gnai3 Gnao1 Igfbp3	14677 14678 14679 14681 16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	Plp1	18823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	Icam1 Il10 Il1rn	15894 16153 16181	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	MDM1	854867	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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