Disease Term Disease ID Gene Symbol Classification References Source
Nanophthalmos 35612 MFRP Causal Pathogenic evidence from ClinVar - ClinVar
TMEM98 Causal Pathogenic evidence from ClinVar - ClinVar
BEST1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRSS56 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NANOPHTHALMOS 2 (disorder) C1836006 MFRP Causal Pathogenic evidence from ClinVar 15976030, 17167404 ClinVar
NANOPHTHALMOS 4 C4014848 TMEM98 Causal Pathogenic evidence from ClinVar 24852644, 26392740 ClinVar