PATL2, PAT1 homolog 2, 197135

N. diseases: 3; N. variants: 14
Disease: OOCYTE MATURATION DEFECT 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1156737044
rs1156737044
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		C 0.800 GeneticVariation CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs1361024832
rs1361024832
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		T 0.800 GeneticVariation CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs1156737044
rs1156737044
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.800 GeneticVariation UNIPROT
dbSNP: rs1361024832
rs1361024832
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.800 GeneticVariation UNIPROT
dbSNP: rs1351320025
rs1351320025
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		A 0.700 GeneticVariation CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs1397500378
rs1397500378
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.700 GeneticVariation UNIPROT Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs1397500378
rs1397500378
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.700 GeneticVariation UNIPROT Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 28965844 2017
dbSNP: rs548527219
rs548527219
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		A 0.700 GeneticVariation CLINVAR Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 28965844 2017
dbSNP: rs569729547
rs569729547
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.700 GeneticVariation UNIPROT Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. 28965844 2017
dbSNP: rs569729547
rs569729547
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.700 GeneticVariation UNIPROT Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs752734259
rs752734259
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 28965849 2017
dbSNP: rs1011539285
rs1011539285
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs1351320025
rs1351320025
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555385717
rs1555385717
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs548527219
rs548527219
Entrez Id: 197135
Gene Symbol: PATL2
PATL2
CUI: C4540284
Disease:
OOCYTE MATURATION DEFECT 4 		A 0.700 CausalMutation CLINVAR