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: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C4540086
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 		disease 0.700 limited 1.000 1 1 2017 2017
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 limited 1.000 1 1 2017 2018
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.400 limited 1.000 0 1 2017 2017
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech 		phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF 		upstream binding transcription factor 0.705 0.462 1.00
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 1