GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
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: rs121917708
rs121917708 		1.000 0.160 2 120978500 missense variant C/G;T snv 4.0E-06
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 3 2003 2010
dbSNP: rs1553471273
rs1553471273 		0.925 0.160 2 120951309 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2003 2013
dbSNP: rs1553477189
rs1553477189 		2 120982843 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2003 2013
dbSNP: rs1553479405
rs1553479405 		1.000 2 120989603 frameshift variant C/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2003 2013
dbSNP: rs1553479405
rs1553479405 		1.000 2 120989603 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2003 2013
dbSNP: rs1553479405
rs1553479405 		1.000 2 120989603 frameshift variant C/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2003 2013
dbSNP: rs869312965
rs869312965 		1.000 2 120955349 frameshift variant G/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2003 2013
dbSNP: rs869312965
rs869312965 		1.000 2 120955349 frameshift variant G/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2003 2013
dbSNP: rs1558937172
rs1558937172 		0.925 0.160 2 120984744 splice donor variant G/A snv
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 1.000 2 2003 2010
dbSNP: rs1558937172
rs1558937172 		0.925 0.160 2 120984744 splice donor variant G/A snv
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 2 2003 2010
dbSNP: rs35539500
rs35539500 		2 120856420 intron variant T/G snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2017 2019
dbSNP: rs10192454
rs10192454 		2 120865193 intron variant G/C snv 0.60
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs13392139
rs13392139 		2 120821192 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2166898
rs2166898 		2 120855084 intron variant G/A snv 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
dbSNP: rs35362712
rs35362712 		2 120856876 intron variant -/T delins 0.60
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057518657
rs1057518657 		1.000 0.160 2 120990568 missense variant A/G;T snv
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057518689
rs1057518689 		1.000 0.160 2 120989172 frameshift variant -/C delins
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057518696
rs1057518696 		1.000 0.160 2 120970438 frameshift variant G/- del
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs114814747
rs114814747 		1.000 2 120990472 missense variant G/A;C snv 9.4E-03; 4.0E-06
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs121917707
rs121917707 		1.000 0.160 2 120975064 stop gained G/A snv
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1272759660
rs1272759660 		1.000 0.160 2 120988708 missense variant C/T snv 1.4E-05
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1388607733
rs1388607733 		0.925 0.160 2 120927402 frameshift variant -/T delins
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs1388607733
rs1388607733 		0.925 0.160 2 120927402 frameshift variant -/T delins
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs149140724
rs149140724 		1.000 2 120989968 missense variant A/G snv 8.6E-03 9.6E-03
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0
dbSNP: rs149800897
rs149800897 		1.000 2 120984610 missense variant C/A;T snv 8.0E-06; 2.0E-05
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		0.700 0