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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 **5526 - 5550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:811	lipodystrophy	Bscl2 Ccl2 Ebf1 Lmna Pparg	13591 14705 16905 19016 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070390	developmental and epileptic encephalopathy 104 Aliases: DEE104 early infantile epileptic encephalopathy 104	Atp6v0a1	11975	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	Abcb1a Abcb1b Ace Adipoq F2 Pomc Thbd Tlr4	11421 11450 14061 18669 18671 18976 21824 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	Myh9	17886	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060354	Stormorken syndrome Aliases: thrombocytopathy, asplenia and miosis	Stim1	20866	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	108902	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	Nup107	103468	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5160	arteriosclerosis obliterans	Thpo	21832	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	Akt1	11651	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	H2-Aa H2-Ab1 Lmna Spry2 Vipr1	14960 14961 16905 22354 24064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	Dnm1 Dnm2 Dnm3 Mtmr14	103967 13429 13430 97287	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	Atp4b H2-Ab1 H2-Eb1 Ptpn11	11945 14961 14969 19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	Ccl11 Nphs1	20292 54631	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	Adamts15 Ecel1 Fbn2 Met Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	13599 140781 14119 17295 17879 17882 17883 17884 17888 235130 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	Vapa	30960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	Chd4	107932	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Cyp1a1 Il10 Il1r2 Il5 Pik3ca Tnfaip3	11651 13076 16153 16178 16191 18706 21929	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:161	keratosis	Mpo	17523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	Aqp5 Ccr5 Il10 Il1rn Muc1 Muc5ac Pltp Sod1 Tlr2 Tlr4	11830 12774 16153 16181 17829 17833 18830 20655 21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	Gpr179	217143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060780	congenital diarrhea 6 Aliases: chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6	Gucy2c	14917	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070197	distal myopathy 1 Aliases: Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1	Myh7	140781	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2703	synovitis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources

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