rs730882242, DIAPH1

N. diseases: 5
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
CUI: C4225261
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
0.700 CausalMutation CLINVAR
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR