Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757078301
rs757078301
Entrez Id: 5281;9419
Gene Symbol: PIGF;CRIPT
PIGF;CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		A 0.800 GeneticVariation CLINVAR CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. 27250922 2016
dbSNP: rs757078301
rs757078301
Entrez Id: 5281;9419
Gene Symbol: PIGF;CRIPT
PIGF;CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.800 GeneticVariation UNIPROT CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. 27250922 2016
dbSNP: rs757078301
rs757078301
Entrez Id: 5281;9419
Gene Symbol: PIGF;CRIPT
PIGF;CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		0.800 GeneticVariation UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs757078301
rs757078301
Entrez Id: 5281;9419
Gene Symbol: PIGF;CRIPT
PIGF;CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587779348
rs587779348
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587779356
rs587779356
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT
CUI: C4014339
Disease:
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 		AGG 0.700 CausalMutation CLINVAR