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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 **10726 - 10750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	Dbh Slc6a3	24898 25699	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	Dbh Hspa5 Slc6a2 Slc6a3	13162 13166 14828 20538	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	Dag1 Sgca	13138 20391	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112374	muscular dystrophy-dystroglycanopathy Aliases: MDDG	Dag1 Pomt1 Pomt2	13138 217734 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	Dag1 Fktn	13138 246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050453	lissencephaly	Dag1 Dync1h1 Nos3 Pomgnt1 Pomt1 Pomt2 Tuba1a Tuba1b Tuba1c Tuba3a Tuba3b Tuba4a Tuba8	13138 13424 18127 217734 22142 22143 22144 22145 22146 22147 53857 68273 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	Dab2ip Dlg1 Dlg2 Dlg4 Ep400 Gabrb1 Gabrb2 Gabrb3 Gabrd Gabrp Gabrq Gabrr1 Gabrr2 Gigyf2 Grin2a Grin2b Grin2c Grin2d Nckap1 Ncor2 Plxnb1 Plxnb2 Plxnb3 Plxnd1 Sin3a Syngap1 Tacr1 Tcf12 Tcf4	13383 13385 140570 140571 14400 14401 14402 14403 14408 14409 14811 14812 14813 14814 20466 20602 21336 21406 21413 216643 227331 235611 23859 240057 50884 57249 67784 69601 75560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab2 Rhcg Slc38a3 Slc4a1	24779 252919 293048 79128	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab2 Myh9 Rhcg Slc38a3 Slc4a1	13132 17886 20533 56315 76257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050984	spinocerebellar ataxia type 37	Dab	39866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	Dab	39866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	Dab Grd Jarid2 Kdm4B Lcch3 Nrx-IV SerT aralar1	318918 32554 37895 39103 39387 39866 39984 43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	Daam2 Lama5	16776 76441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112175	spermatogenic failure 47 Aliases: SPGF47	DZIP1	22873	Homo sapiens (human)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	DZIP1 FZD5 LAMB1 PTCH2 SALL2 TMEM67 YAP1	10413 22873 3912 6297 7855 8643 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070037	autosomal dominant intellectual developmental disorder 7 Aliases: DYRK1A syndrome MRD7 autosomal dominant mental retardation 7 autosomal dominant non-syndromic intellectual disability 7	DYRK1A	1859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	DYNC2H1 INTU NEK1	27152 4750 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:14679	VACTERL association	DYNC2H1 FN1 PCSK5 QSOX1 SHH TBC1D32	221322 2335 5125 5768 6469 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070043	autosomal dominant intellectual developmental disorder 13 Aliases: MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1 Aliases: spinal muscular atrophy with lower extremity predominance 1	DYNC1H1	1778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081270	Smith-McCort dysplasia 1	DYM	54808	Homo sapiens (human)	Alliance of Genome Resources

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