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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 **8276 - 8300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	FBN2	2201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	Fbn2	14119	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Ecel1	60417	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Ecel1	13599	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	Nep2 goe	32660 40588	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	Plg	18815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	PLG	5340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	VPS13A VPS13B VPS13C	157680 23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111586	Martsolf syndrome Aliases: cataract-intellectual disability-hypogonadism syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	Lmna	16905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	cpd-2 egl-21	177940 181684	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	CPN1	1369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	Cpn1	93721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	Cpn1	365466	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	Tnfrsf11b	25341	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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