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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 **8026 - 8050** of **15957** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
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: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	20674	Mus musculus (house mouse)	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	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	12159	Mus musculus (house mouse)	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: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: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: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:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	Hccs	15159	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: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:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	80903	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	Fgf16	60464	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcfc1	15161	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcf	43788	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	Clcn3 Clcn5	12725 12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources

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