PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
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: rs10786662
rs10786662 		1.000 0.080 10 102230055 downstream gene variant G/C snv 0.58
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs104894175
rs104894175 		0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		Eye Diseases 0.700 1.000 2 1998 2004
dbSNP: rs1411557416
rs1411557416 		0.925 0.080 10 102230767 frameshift variant CAGGGCCCCAGGCCCTG/-;CAGGGCCCCAGGCCCTGCAGGGCCCCAGGCCCTG delins 7.5E-05 2.8E-05
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		Eye Diseases 0.700 1.000 2 2007 2014
dbSNP: rs1411557416
rs1411557416 		0.925 0.080 10 102230767 frameshift variant CAGGGCCCCAGGCCCTG/-;CAGGGCCCCAGGCCCTGCAGGGCCCCAGGCCCTG delins 7.5E-05 2.8E-05
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2007 2014
dbSNP: rs10786662
rs10786662 		1.000 0.080 10 102230055 downstream gene variant G/C snv 0.58
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1564991256
rs1564991256 		10 102230773 frameshift variant C/- delins
CUI: C3807151
Disease: CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
CATARACT 11, POSTERIOR POLAR, WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES 		0.700 0
dbSNP: rs1564991256
rs1564991256 		10 102230773 frameshift variant C/- delins
CUI: C3807150
Disease: CATARACT 11, POSTERIOR POLAR
CATARACT 11, POSTERIOR POLAR 		0.700 0
dbSNP: rs2281983
rs2281983 		0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.060 0.833 6 2011 2017
dbSNP: rs4919621
rs4919621 		0.851 0.080 10 102238914 intron variant A/T snv 0.66
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.060 0.833 6 2011 2014
dbSNP: rs1013639215
rs1013639215 		1.000 0.040 10 102231987 missense variant C/G;T snv 4.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104894175
rs104894175 		0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs104894175
rs104894175 		0.882 0.200 10 102232043 missense variant C/T snv 4.4E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2281983
rs2281983 		0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2281983
rs2281983 		0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2281983
rs2281983 		0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4919621
rs4919621 		0.851 0.080 10 102238914 intron variant A/T snv 0.66
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs4919621
rs4919621 		0.851 0.080 10 102238914 intron variant A/T snv 0.66
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs4919621
rs4919621 		0.851 0.080 10 102238914 intron variant A/T snv 0.66
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs751473385
rs751473385 		1.000 0.040 10 102231690 synonymous variant C/T snv 4.1E-06 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012