Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 		0.600 CausalMutation CLINVAR Lessons learned from additional research analyses of unsolved clinical exome cases. 28327206

2017
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 		0.600 GeneticVariation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR