Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 GeneticVariation disease UNIPROT CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. 27250922 2016
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 GeneticVariation disease CLINVAR CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. 27250922 2016
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 Biomarker disease GENOMICS_ENGLAND Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 Biomarker disease GENOMICS_ENGLAND Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 GeneticVariation disease UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.600 CausalMutation disease CLINVAR