SH3PXD2B, SH3 and PX domains 2B, 285590

N. diseases: 96; N. variants: 7
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1855305
Disease: Ter Haar syndrome
Ter Haar syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 1 5 0.780 None 1.000 9 5 1982 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.310 None 1.000 2 2009 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.310 None 1.000 1 2012 2012
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.300 None 1.000 1 2009 2009
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2009 2009
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2009 2009
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2009 2009
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.210 None 1.000 3 2009 2011
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.110 None 1.000 1 2019 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.110 None 1.000 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 2 2019 2019
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
Anterior concavity of thoracic vertebrae
phenotype Finding 2 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0426801
Disease: Broad clavicle
Broad clavicle
phenotype Finding 9 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0