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: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C4310661
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 		disease 0.700 strong 1.000 0 2 2015 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		disease 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C3554538
Disease: Persistent lactic acidosis
Persistent lactic acidosis 		phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1