Source: HPO

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: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1832127
Disease: Square face
Square face 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.110 None 1.000 0 0 2000 2000
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 0 2014 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype 0.110 None 1.000 0 0 2006 2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0