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: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Furthermore, a PX domain mutant (R43W) Tks4 carrying a reported point mutation in a Frank-ter Haar syndrome patient showed aberrant intracellular expression and reduced phosphoinositide binding. 22829589 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE SH3PXD2B is required for the formation of functional podosomes, and loss-of-function mutations in SH3PXD2B have recently been shown to underlie 7 of 13 families with Frank-Ter Haar syndrome (FTHS). 24105366 2014
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Our results suggest that misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes. 26183326 2015
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. 23140272 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease BEFREE Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling. 29928795 2018
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease CLINVAR
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. 23140272 2012
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease BEFREE Macro-examination of skulls from Tks4-deficient mice revealed craniofacial malformations that were very similar to symptoms of the FTHS patient. 30962481 2019
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease CTD_human
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 CausalMutation disease CLINVAR
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease UNIPROT Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Melnick-Needles syndrome: indication for an autosomal recessive form. 7158646 1982
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GermlineCausalMutation disease ORPHANET Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE We report the first description of a Moroccan FTHS patient with two novel compound heterozygous mutations c.806G>A; p.Trp269* (maternal allele) and c.892delC; p.Asp299Thrfs*44 (paternal allele) in the SH3PXD2B gene. 28694206 2017
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome 		0.780 GeneticVariation disease BEFREE Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. 20137777 2010
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.310 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.310 Biomarker disease MGD
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.310 GeneticVariation disease BEFREE Here, we use immunohistochemistry to describe localization of the SH3PXD2B protein throughout the adult human eye and test whether sequence variants in SH3PXD2B occur in multiple other forms of glaucoma. 22509100 2012
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.210 Biomarker disease MGD Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. 21282566 2011
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.210 Biomarker disease MGD The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.210 GeneticVariation disease BEFREE The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans. 21818352 2011
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 GeneticVariation disease BEFREE In both humans and mice, mutations disrupting function of the SH3PXD2B adaptor protein cause a developmental syndrome including secondary congenital glaucoma. 31211954 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO