Source: INFERRED

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 23 174 2004 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
disease 0.600 strong 1.000 5 14 2004 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 0 2 2014 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease 0.400 strong 1.000 1 1 2018 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 0 0 2014 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
Congenital ear anomaly NOS (disorder)
group 0.200 None 1.000 0 0 1991 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
Congenital ocular coloboma (disorder)
disease 0.200 None 1.000 0 1 1991 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 0 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 0 0 2011 2019
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 0 0 2000 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease 0.130 None 1.000 0 1 1996 2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.120 None 1.000 0 0 2010 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.120 None 1.000 0 0 1991 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype 0.120 None 1.000 0 0 2009 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease 0.120 None 1.000 0 0 2008 2017
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 20 7 1999 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease 0.110 None 1.000 0 1 2008 2008
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.110 None 1.000 0 1 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.110 None 1.000 0 0 1998 1998