Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 		T 0.800 CausalMutation CLINVAR Lessons learned from additional research analyses of unsolved clinical exome cases. 28327206

2017
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C0019572
Disease: Hirsutism
Hirsutism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR