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: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0