Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918128
rs121918128
INPP5E
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121918129
rs121918129
INPP5E
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121918130
rs121918130
INPP5E
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs746212325
rs746212325
INPP5E
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121918127
rs121918127
INPP5E
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		A 0.700 CausalMutation CLINVAR

dbSNP: rs13297509
rs13297509
INPP5E
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1431917892
rs1431917892
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs1564430716
rs1564430716
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215

2009