Source: HPO

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: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 None 1.000 0 0 2011 2011
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease 0.200 None 1.000 0 0 1999 2019
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.120 None 1.000 0 0 2007 2012
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0