BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
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: rs2855530
rs2855530 		1.000 0.120 14 53955199 non coding transcript exon variant G/C snv 0.50
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 1.000 2 2012 2015
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
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 2019 2019
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2017 2017
dbSNP: rs762642
rs762642 		1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs762642
rs762642 		1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2761884
rs2761884 		0.925 0.120 14 53954334 intron variant G/T snv 0.34
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2761884
rs2761884 		0.925 0.120 14 53954334 intron variant G/T snv 0.34
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		Eye Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs2761884
rs2761884 		0.925 0.120 14 53954334 intron variant G/T snv 0.34
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		Musculoskeletal Diseases; Wounds and Injuries 0.010 1.000 1 2015 2015
dbSNP: rs121912767
rs121912767 		1.000 0.120 14 53951951 missense variant G/C snv 1.8E-04 1.7E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs376960358
rs376960358 		1.000 0.080 14 53951861 missense variant T/C snv 3.4E-04 1.5E-04
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs534215890
rs534215890 		1.000 0.040 14 53950453 missense variant C/T snv 3.0E-04 9.1E-05
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs770493925
rs770493925 		1.000 0.120 14 53950774 missense variant C/T snv 1.8E-04 4.2E-05
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs777406477
rs777406477 		1.000 0.040 14 53950783 missense variant C/T snv 4.8E-05 7.0E-06
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121912765
rs121912765 		0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 1 2008 2008