PATL2, PAT1 homolog 2, 197135

N. diseases: 3; N. variants: 14
Disease: OOCYTE MATURATION DEFECT 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.400 GeneticVariation disease CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.400 GeneticVariation disease UNIPROT Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.400 GeneticVariation disease CLINVAR Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 28965844 2017
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.400 GeneticVariation disease UNIPROT Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 28965844 2017
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.400 CausalMutation disease CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017