rs1554208945, ZNF292

N. diseases: 26
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alveolar ridge overgrowth
CUI: C1865598
Disease: Alveolar ridge overgrowth
0.700 GeneticVariation CLINVAR
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 GeneticVariation CLINVAR
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
0.700 GeneticVariation CLINVAR
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
0.700 GeneticVariation CLINVAR
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
0.700 GeneticVariation CLINVAR
Clinodactyly of the 3rd toe
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
0.700 GeneticVariation CLINVAR
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Overriding toe
CUI: C0920299
Disease: Overriding toe
0.700 GeneticVariation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 GeneticVariation CLINVAR
Progressive spastic quadriplegia
CUI: C1859736
Disease: Progressive spastic quadriplegia
0.700 GeneticVariation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
0.700 GeneticVariation CLINVAR
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 GeneticVariation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 GeneticVariation CLINVAR
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Micronychia (disorder)
CUI: C0263523
Disease: Micronychia (disorder)
0.700 GeneticVariation CLINVAR
Clinodactyly of the 4th toe
CUI: C4020740
Disease: Clinodactyly of the 4th toe
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
0.700 GeneticVariation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 GeneticVariation CLINVAR