Source: GENOMICS_ENGLAND

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: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease 0.700 limited 1.000 0 0 1995 2020
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 1 0 2013 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 1 0 2019 2019