Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		0.600 CausalMutation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724

2011
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724

2011
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724

2011
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301

2007
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301

2007
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301

2007
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982

2000
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982

2000
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982

2000
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0013132
Disease: Drooling
Drooling 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 GeneticVariation CLINVAR