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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 **6676 - 6700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 ALAS1 EPO GBE1 IREB2	2056 211 2632 3658 48	Homo sapiens (human)	Alliance of Genome Resources
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	BDKRB1 CCL2 CD28 CD40LG EPO F3 FAS FASLG FN1 GP1BA GPX1 HLA-DRB1 ICAM1 IL1RN ITGAM MMP14 NOS2 NOS3 PLAT PON1 RBP4 SERPINE1 SOD1 SOD2 SPARC TNF VEGFA	2056 2152 2335 2811 2876 3123 3383 355 3557 356 3684 4323 4843 4846 5054 5327 5444 5950 623 6347 6647 6648 6678 7124 7422 940 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ABCB1 CCL2 EPOR G6PD GABRA1 GABRB1 GABRG2 GC GLUD1 GLUD2 GRIA1 HIF1A INSR NOS1 NOS2 PTGS1	2057 2539 2554 2560 2566 2638 2746 2747 2890 3091 3643 4842 4843 5243 5742 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	EPOR	2057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070398	hypomyelinating leukodystrophy 15 Aliases: HLD15	EPRS1	2058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081441	Nicolaides-Baraitser syndrome Aliases: Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	Smarca4	20586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	Smarca4	20586	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	Arid1a Bicra Phf10 Smarcc1 Smarcc2 Smarcd1 Smarcd2	20588 243842 68094 72057 83796 83797 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	EPS8	2059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	Smpd1	20597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	Sms	20603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	Snai1 Trp53	20613 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	Snap25	20614	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	Snca	20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	Snca	20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	Eftud2 Tcof1	20624 21453	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	Eftud2	20624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	Eftud2	20624	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	ERBB2	2064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	ADIPOQ BIRC2 BRINP3 ERBB3 ERBB4 FANCB FANCG FANCM FOS FOSB FOSL2 FUBP1 HGF IFNG IL10 IL1RL1 IL2 JAK3 JUN JUNB JUND MAP2K4 MET MMP9 SLC1A5 SLC3A2 SLC7A11 SLC7A5 SOX2 TP53	2065 2066 2187 2189 2353 2354 2355 23657 3082 329 339479 3458 3558 3586 3718 3725 3726 3727 4233 4318 57697 6416 6510 6520 6657 7157 8140 8880 9173 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	Sod1 Usp14	20655 59025	Mus musculus (house mouse)	Alliance of Genome Resources

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