BRAT1, BRCA1 associated ATM activator 1, 221927

N. diseases: 61; N. variants: 16
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4748032
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 		disease Disease or Syndrome 1 4 0.400 None 1.000 3 4 2015 2016
CUI: C3281034
Disease: Multifocal seizures
Multifocal seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.100 None 0
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		phenotype Finding 5 2 0.100 None 0
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		disease Disease or Syndrome 6 14 0.780 None 0.917 12 14 2012 2018
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 2 0.100 None 0
CUI: C1859680
Disease: Broad face
Broad face 		phenotype Finding 14 0.100 None 0
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype Finding 37 0.100 None 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None 1.000 1 2014 2014
CUI: C0009024
Disease: Clonus
Clonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 60 4 0.100 None 0
CUI: C0428977
Disease: Bradycardia
Bradycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 81 10 0.010 None 1.000 1 2014 2014
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.010 None 1.000 1 2016 2016
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C0017639
Disease: Gliosis
Gliosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0