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: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		disease 0.700 None 1.000 14 37 1997 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group 0.650 strong 1.000 9 7 1997 2018
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B 		disease 0.600 strong 1.000 13 33 1997 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		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: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		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: C1853241
Disease: Flat face
Flat face 		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: C1837402
Disease: Flat occiput
Flat occiput 		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: C1839630
Disease: Severe muscular hypotonia
Severe muscular 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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		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: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		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: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		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: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal 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: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		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: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		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: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		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: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		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: C0557874
Disease: Global developmental delay
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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C0848558
Disease: Hypospadias
Hypospadias 		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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0