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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		0.100 Biomarker phenotype HPO
CUI: C0702166
Disease: Acne
Acne 		0.100 Biomarker disease HPO
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		0.100 Biomarker phenotype HPO
CUI: C1839822
Disease: Anterior concavity of thoracic vertebrae
Anterior concavity of thoracic vertebrae 		0.100 Biomarker phenotype HPO
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		0.100 Biomarker phenotype HPO
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		0.100 Biomarker phenotype HPO
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		0.100 Biomarker phenotype HPO
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		0.010 Biomarker disease BEFREE In genetic experiments, exon sequences of SH3PXD2B from patients with primary congenital glaucoma (n=21), Axenfeld-Rieger syndrome (n=30), and primary open angle glaucoma (n=127) were compared to control subjects (n=89). 22509100 2012
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C1859406
Disease: Borrone Di Rocco Crovato syndrome
Borrone Di Rocco Crovato syndrome 		0.100 CausalMutation disease CLINVAR
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		0.100 Biomarker phenotype HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE The Tks4 scaffold protein has been implicated in cancer progression; however, its role in oncogenesis is not well defined. 31671862 2019
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells. 31671862 2019