Gene: ZMPSTE24 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.110 GeneticVariation group BEFREE We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. 18435794 2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.110 Biomarker group HPO