Macular dystrophy, patterned

Disease Term Disease ID Gene Symbol Classification References Source
Butterfly-shaped pigment dystrophy 99001 CTNNA1 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
OTX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Butterfly-shaped pigmentary macular dystrophy C4511237 CTNNA1 Causal Pathogenic evidence from ClinVar 26691986 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar 8485574 ClinVar
OTX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25293953 -
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 C1837029 CTNNA1 Causal Pathogenic evidence from ClinVar 26691986 ClinVar
MAPKAPK3 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
MACULAR DYSTROPHY, PATTERNED, 3 C4310713 MAPKAPK3 Causal Pathogenic evidence from ClinVar 26744326 ClinVar
Martinique crinkled retinal pigment epitheliopathy 466718 MAPKAPK3 Causal Pathogenic evidence from ClinVar - ClinVar
MACULAR DYSTROPHY, PATTERNED, 1 C4551999 PRPH2 Causal Pathogenic evidence from ClinVar 8485574, 9443872, 16024869, 26796962 ClinVar