Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease 1.000 definitive 0.981 157 204 2004 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group 0.200 None 1.000 22 0 1991 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 21 10 1999 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.200 None 1.000 21 1 1991 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 21 7 1999 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 20 3 1999 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 20 2 1999 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.100 None 0.947 19 0 1991 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease 0.600 None 1.000 16 0 2006 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		disease 0.600 strong 1.000 10 25 2004 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		disease 0.510 None 1.000 9 0 2005 2015
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease 0.080 None 1.000 8 0 1988 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group 0.070 None 1.000 7 0 2003 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease 0.060 None 1.000 6 0 1988 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease 0.160 None 1.000 6 0 2000 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0302142
Disease: Deformity
Deformity 		group 0.050 None 1.000 5 0 2012 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease 0.340 strong 1.000 5 0 2008 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group 0.050 None 1.000 5 0 2010 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease 0.050 None 1.000 5 0 2000 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.140 None 1.000 4 0 2011 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease 0.040 None 1.000 4 0 1991 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.040 None 1.000 4 0 2012 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group 0.040 None 0.750 4 0 2009 2012
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.030 None 1.000 3 0 1991 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.130 None 1.000 3 0 2000 2016