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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 **13426 - 13450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	Atp7a Lox	11977 16948	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	Atp7a Dpp6 Hexb Kif5b	11977 13483 15212 16573	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:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	Atp6v0a1 Atp6v0a2	11975 21871	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080720	autosomal dominant congenital deafness with onychodystrophy	Atp6v1b2	11966	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	Atp6v0a1 Atp6v0a2 Atp6v1b2 Ctsb Rhag Rhbg Rhcg Rhd Slc4a1 Slc4a4	11966 11975 13030 19743 19746 20533 21871 54403 56315 58176	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	Atp6v1a	11964	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	Atp6v1a	11964	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	Atp5f1a	11946	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	Atp5f1a	11946	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	Atp5f1a	11946	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	Atp5f1a Avp Bdnf Epo Fgfr1 Flt1 Gclm Gpx1 Grin1 Grin2a Grin2b Gsk3b Hspa1a Igf1r Mapt Mmp2 Mtor Nefl Nox1 Pon2 Rps6 Snca Sncg Srebf2 Tnf Trp53	11946 11998 12064 13856 14182 14254 14630 14775 14810 14811 14812 16001 17390 17762 18039 193740 20104 20617 20618 20788 21926 22059 237038 330260 56637 56717	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	Atp4b	11945	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:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	Atp2b1 Atp2b2 Atp2b4	11941 381290 67972	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	Atp2b2 Cdh23	11941 22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	Atp2b2 Col11a1 Epha10 Grhl2 Map1b	11941 12814 17755 230735 252973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	Atp2a2	11938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050606	acrokeratosis verruciformis Aliases: Acrokeratosis verruciformis of Hopf Hopf disease	Atp2a2	11938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2856	euthyroid sick syndrome Aliases: Sick-euthyroid syndrome	Atp2a2	11938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	Atp2a2 Bax Fas Lep Lpl	11938 12028 14102 16846 16956	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	Atp2a1 Atp2a2 Atp2a3	11937 11938 53313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111558	Charcot-Marie-Tooth disease type 2DD Aliases: ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD	Atp1a1 Atp1a2 Atp1a3 Atp4a	11928 11944 232975 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:863	nervous system disease	Atg7 Atp1a1 Atp1a2 Atp1a3 Atp4a Kif1c Skor1	11928 11944 16562 207667 232975 74244 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	Atp1a1 Atp1a2 Atp1a3 Atp4a Cacna1a	11928 11944 12286 232975 98660	Mus musculus (house mouse)	Alliance of Genome Resources

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