SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		0.100 Biomarker phenotype HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		0.100 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0239676
Disease: High forehead
High forehead 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		0.100 Biomarker phenotype HPO
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.100 Biomarker phenotype HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.100 Biomarker disease HPO
CUI: C0702166
Disease: Acne
Acne 		0.100 Biomarker disease HPO
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 Biomarker phenotype HPO