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: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		disease 0.710 None 1.000 0 2 2007 2020
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		disease 0.610 strong 1.000 0 4 2007 2017
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0