Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		disease 0.710 None 0.750 2 12 2005 2018
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		disease 0.650 None 1.000 0 1 1997 2012
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.500 None 0.971 1 1 1989 2019
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease 0.200 None 1.000 1 1 1988 2019
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease 0.110 None 1.000 0 1 2011 2011
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype 0.100 None 1.000 1 1 2005 2005
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		disease 0.100 None 1.000 1 2 2005 2005
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype 0.100 None 1.000 1 1 2005 2005
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 4
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		disease 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1