Source: INFERRED

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: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3551381
Disease: PEROXISOMAL BIOGENESIS DISORDER 3B
PEROXISOMAL BIOGENESIS DISORDER 3B 		disease 0.100 None 0 3
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype 0.100 None 0 0