Genes | GeDiPNet - Gene Disease Pathway & Associations

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Showing genes starting with "E"

31 to 40 of 360 Genes

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	Entrez ID	Gene Symbol	Gene Name	Synonyms	Diseases
31	11117	EMILIN1	Elastin microfibril interfacer 1	ATBFS, EMI, EMILIN, HMN10, HMND10, gp115	Connective tissue disease, Thoracic aortic aneurysm and aortic dissection
32	11160	ERLIN2	ER lipid raft associated 2	C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B	Aphasia, Developmental delay, Developmental regression, Disability-motor dysfunction-multiple joint contractures syndrome, Dysphagia, Elbow flexion contracture, Febrile seizures, Flexion contracture of wrist, High palate, Hip contracture, Mental retardation, Language disorders, Lateral sclerosis, Macroglossia, Macrostomia View all (8 more)
33	112398	EGLN2	Egl-9 family hypoxia inducible factor 2	EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1	Erythrocytosis, Hereditary paraganglioma-pheochromocytoma syndromes
34	112399	EGLN3	Egl-9 family hypoxia inducible factor 3	HIFP4H3, HIFPH3, PHD3	Leukemia, Liver neoplasms, Liver cancer
35	112479	ERI2	ERI1 exoribonuclease family member 2	EXOD1, ZGRF5	Colorectal cancer
36	11336	EXOC3	Exocyst complex component 3	SEC6, SEC6L1, Sec6p	Hypospadias
37	11340	EXOSC8	Exosome component 8	CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9	Cerebral cortical atrophy, Developmental delay, Hypoplasia of corpus callosum, Pontoneocerebellar hypoplasia, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy
38	114327	EFHC1	EF-hand domain containing 1	EJM1, POC9, RIB72, dJ304B14.2	Absence seizure, Akinetic petit mal, Asthma, Dermatitis, Epilepsy, Febrile seizures, Mouth abnormalities, Myoclonic epilepsy, Myoclonic seizures, Photosensitive tonic-clonic seizures, Seizure, Status epilepticus, Vascular diseases
39	1161	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	CKN1, CSA, UVSS2	Anhidrosis, Cataract, Cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Cockayne syndrome, Congenital pes cavus, Congestive heart failure, Cryptorchidism, Dementia, Dysarthria, Hearing loss, Hydrocephalus, Hyperopia, Hypertension View all (15 more)
40	124454	EARS2	Glutamyl-tRNA synthetase 2, mitochondrial	COXPD12, MSE1, gluRS, mtGlnRS, mtGluRS	Combined oxidative phosphorylation deficiency, Developmental delay, Developmental regression, Dysplastic corpus callosum, Epilepsy, High palate, Hypoplasia of corpus callosum, Leukoencephalopathy, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Hypotonia, Ptosis, Seizure, Spastic tetraparesis

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