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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. 19669234 2009
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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 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: 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: 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: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 GeneticVariation disease BEFREE The femurs of the Sh3pxd2b-KO mice had alterations in the trabecular system and showed signs of osteoporosis, and, similarly, the FTHS patient also showed increased trabecular separation/porosity. 30962481 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		0.100 Biomarker phenotype HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO