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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **551 - 575** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	LTBP2	4053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	Bmp5	12160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 2890 29072 3183 57609 6418 64864 6874 7204 81562 818 9757 9969	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	Nrx-IV	39387	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	ASCC3 TPR	10973 7175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	DDX3X NKAP ZFX	1654 7543 79576	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060316	orofaciodigital syndrome I Aliases: Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I	Ofd1	237222	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	MYC	4609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	Abcc8	25559	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: exomphalos omphalocoele	Lrp1	16971	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	Abcc8	20927	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	HSPA9	3313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	Snap29	67474	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060340	ciliopathy	Spry2	24064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060340	ciliopathy	pkd2	432387	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	Trappc10	216131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	TBCE	6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	Aprt	11821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1	79813	Homo sapiens (human)	Alliance of Genome Resources

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