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 CLINVAR
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: C0017601
Disease: Glaucoma
Glaucoma 		0.310 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.310 Biomarker disease MGD
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
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
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		0.100 Biomarker phenotype HPO
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		0.100 Biomarker disease HPO