PDLIM3, PDZ and LIM domain 3, 27295

N. diseases: 118; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201185673
rs201185673 		1.000 0.080 4 185506632 missense variant G/A snv 3.0E-04 1.4E-04
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4635850
rs4635850 		1.000 0.040 4 185502483 splice region variant G/A;T snv 0.79
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs764191858
rs764191858 		0.882 0.040 4 185502359 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs764191858
rs764191858 		0.882 0.040 4 185502359 missense variant G/A snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs764191858
rs764191858 		0.882 0.040 4 185502359 missense variant G/A snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs774383499
rs774383499 		1.000 0.080 4 185502466 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015