Source: ALL

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 45 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 2 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: 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
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: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease 0.300 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.120 None 1.000 2 1 1999 2006
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype 0.110 None 1.000 1 0 2012 2012
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.110 None 1.000 1 0 2015 2015
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 0.987 158 0 1990 2020
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease 0.100 None 0.985 137 0 1989 2020
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.100 None 0.970 100 0 1989 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0011847
Disease: Diabetes
Diabetes 		disease 0.100 None 0.969 98 0 1989 2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group 0.100 None 0.984 63 0 1998 2020
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		disease 0.100 None 0.977 44 0 1995 2019