Microcephalic osteodysplastic primordial dwarfism

Disease Term Disease ID Gene Symbol Classification References Source
Microcephalic osteodysplastic primordial dwarfism type II 2637 PCNT Causal Pathogenic evidence from ClinVar - ClinVar
Microcephalic Osteodysplastic Primordial Dwarfism, Type II C0432246 PCNT Causal Pathogenic evidence from ClinVar 15368497, 18174396, 19643772, 19839044, 21270239 ClinVar
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I C1859452 CLASP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21474760, 22786707, 26522830 -
Microcephalic osteodysplastic primordial dwarfism types I and III 2636, C4319565 RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21815888, 23794361 -