EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Disease: Abnormality of the cranial nerves ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.120 GeneticVariation disease BEFREE Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement. 11523566 2001
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.120 GeneticVariation disease BEFREE Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. 10762521 2000
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.120 Biomarker disease HPO