DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
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: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C0266039
Disease: Taurodontism
Taurodontism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C0157733
Disease: Abnormality of the hair
Abnormality of the hair 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518764
rs1057518764 		0.827 0.200 17 49991807 frameshift variant C/-;CC delins
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1555617226
rs1555617226 		0.851 0.160 17 49993440 missense variant C/A snv
CUI: C0266039
Disease: Taurodontism
Taurodontism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1555617226
rs1555617226 		0.851 0.160 17 49993440 missense variant C/A snv
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1555617226
rs1555617226 		0.851 0.160 17 49993440 missense variant C/A snv
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1555617226
rs1555617226 		0.851 0.160 17 49993440 missense variant C/A snv
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs387906405
rs387906405 		1.000 0.160 17 49991807 frameshift variant CCCC/- del
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs387906406
rs387906406 		0.925 0.160 17 49991819 frameshift variant AG/- delins
CUI: C1863012
Disease: Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs387906406
rs387906406 		0.925 0.160 17 49991819 frameshift variant AG/- delins
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs2278163
rs2278163 		0.925 0.080 17 49995062 5 prime UTR variant G/A snv 0.27
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.020 1.000 2 2015 2018
dbSNP: rs2278163
rs2278163 		0.925 0.080 17 49995062 5 prime UTR variant G/A snv 0.27
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015