Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1262477
Disease: Weight decreased
Weight decreased
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
Very long chain fatty acid accumulation
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4025679
Disease: Stippled chondral calcification
Stippled chondral calcification
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.100 Biomarker HPO

Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.100 Biomarker HPO