MSX1, msh homeobox 1, 4487

N. diseases: 180; 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: rs121913129
rs121913129 		1.000 0.080 4 4862836 missense variant G/C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 1996 2002
dbSNP: rs121913130
rs121913130 		1.000 0.080 4 4860099 missense variant T/A;C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 1996 2002
dbSNP: rs28928890
rs28928890 		1.000 0.120 4 4860150 missense variant A/G;T snv 9.6E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs28933081
rs28933081 		1.000 0.120 4 4860264 missense variant G/A;T snv 4.1E-05
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2003 2003
dbSNP: rs515726227
rs515726227 		0.925 0.080 4 4863139 frameshift variant -/TA delins
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.710 1.000 2 1996 2014
dbSNP: rs150284621
rs150284621 		1.000 0.120 4 4862702 missense variant G/A;T snv 8.2E-06; 2.3E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs759548721
rs759548721 		1.000 0.120 4 4860258 missense variant T/G snv 1.8E-04 1.6E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs104893850
rs104893850 		1.000 0.080 4 4862808 stop gained C/T snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs104893852
rs104893852 		1.000 0.080 4 4860231 stop gained C/A snv 7.0E-06
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs104893853
rs104893853 		1.000 0.120 4 4862854 stop gained C/A;G snv 1.6E-05
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs104893854
rs104893854 		1.000 0.120 4 4860357 missense variant C/A;G;T snv 1.5E-04; 4.5E-06; 4.5E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553877821
rs1553877821 		1.000 0.080 4 4859979 frameshift variant -/A delins
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1553878162
rs1553878162 		1.000 0.120 4 4862892 stop gained C/T snv
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.020 0.500 2 2011 2013
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 0.500 2 2011 2013
dbSNP: rs1095
rs1095 		0.925 0.080 4 4863211 3 prime UTR variant C/T snv 1.5E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2011 2011
dbSNP: rs1095
rs1095 		0.925 0.080 4 4863211 3 prime UTR variant C/T snv 1.5E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2018 2018
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
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: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 < 0.001 1 2020 2020
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
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: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs12532
rs12532 		0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
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