Source: CLINVAR

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: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.780 None 1.000 3 3 2003 2017
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		disease 0.720 None 1.000 0 1 2009 2019
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease 0.700 None 1.000 1 17 2009 2019
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		phenotype 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		phenotype 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		group 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.100 None 0 1