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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 **8701 - 8725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3213	demyelinating disease Aliases: demyelinating disorder	MFM1	856045	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	MFRP MYRF NOG	745 83552 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080634	nanophthalmos	MFRP MYRF	745 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	MFRP PRPH2 RDH5 RHO RLBP1	5959 5961 6010 6017 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	MFRP	83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	MFSD2A	84879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	MFSD8	256471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	MGAT2	4247	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080697	Opitz GBBB syndrome Aliases: Opitz G/BBB Syndrome Opitz GBBB syndrome type I	MID1	4281	Homo sapiens (human)	Alliance of Genome Resources
DOID:3612	retinitis	MIF	4282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)	Alliance of Genome Resources
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	MITF TGFB1	4286 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090002	Tietz syndrome Aliases: Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:5031	adult pineal parenchymal tumor Aliases: adult Pineal Parenchymal neoplasm	MKI67	4288	Homo sapiens (human)	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	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	MLH1 MSH2	4292 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	Homo sapiens (human)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	MLLT10	8028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	MLP1 MLP2	853970 854657	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources

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