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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 **726 - 750** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:5485	synovial sarcoma	CG10555	31771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	Stra6	20897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	Stra6	363071	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	dbl-1	179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	bmp4.S	399322	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	Bmp4	12159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111806	syndromic microphthalmia 5 Aliases: MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation	OTX2	5015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	Sox2	20674	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	Sox2	499593	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	SOX2	6657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111800	syndromic microphthalmia 12 Aliases: MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects	RARB	5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	Agap2 Anapc7 Dot1l Dyrk1b Ezh2 Fry Prpf19 Zmynd8	13549 14056 208266 216439 228880 28000 320365 56317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	AGAP1 AGAP2 AGAP5 AGAP9 AUTS2 BRPF1 DOT1L DYRK1A EZH2 FRY FRYL KDM5B OPHN1 PDZD8 PRPF19 PSMC3 UNC79 ZMYND8	10129 10765 116986 116987 118987 1859 2146 23613 26053 27339 285527 4983 5702 57578 642517 729092 7862 84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	mnb tay	32547 32771	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	Cnksr2	245684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	SRB8	850442	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources

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