GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **12526 - 12550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	CPS1 ITGAM NOS3 PTEN	1373 3684 4846 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	ADIPOQ CPS1 GLO1 IL1RN TIMP1	1373 2739 3557 7076 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	Mark1 Mark2 Mark3 Mark4	13728 17169 226778 232944	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	Emd	13726	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	Emd Lemd3 Lmna Lmnb1 Lmnb2 Syne1 Syne2 Tmpo	13726 16905 16906 16907 21917 319565 380664 64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	CPOX	1371	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ALDH2 CPOX CYP2E1 DPYD FAS FASLG GLUL HFE HLA-DPB1 KDSR KRT18 MBL2 MDM2 PRKCSH SERPINA1 THBD TNF	1371 1571 1806 217 2531 2752 3077 3115 355 356 3875 4153 4193 5265 5589 7056 7124	Homo sapiens (human)	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:0070371	leukoencephalopathy with vanishing white matter 4	Eif2b4	13667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	Eif2b4 Eif2b5	13667 224045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	Eif2ak3	13666	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:62	aortic valve disease	Adamts19 Egfr Nos3	13649 18127 240322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	Adar Cd274 Egfr Foxp3 H2-Eb1 Il1rl1 Tlr3 Tlr9	13649 142980 14969 17082 20371 56417 60533 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:571	median neuropathy	Egfr Erbb2 Erbb3 Erbb4	13649 13866 13867 13869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	Egfr Emc1 Erbb2 Erbb3 Erbb4 Kras Lyn Mpc2 Notch1 Notch2 Notch3 Ptpn2 Sox2 Src Wwtr1 Yap1 Yes1	13649 13866 13867 13869 16653 17096 18128 18129 18131 19255 20674 20779 22601 22612 230866 70456 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	Egfr Erbb2 Erbb3 Erbb4 Gpx1 Map2k4 Mlh1 Mmp2 Rela	13649 13866 13867 13869 14775 17350 17390 19697 26398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	Egf Ptges3	13645 56351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	Egf Psmc5 Tnf	13645 19184 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	Egf Igf1r	13645 16001	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:799	varicose veins Aliases: Varix Venous ectasia Venous varices varices	Dll4 Efnb2 Lum Mmp1a Mmp9 Pecam1 Vim	13642 17022 17395 18613 22352 54485 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	Efnb1	13641	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1934	dysostosis	Efnb1 Kif3a	13641 16568	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060668	anencephaly	Efna5	13640	Mus musculus (house mouse)	Alliance of Genome Resources

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