SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
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: C0265245
Disease: Nager syndrome
Nager syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 6 23 0.800 strong 1.000 12 22 2012 2019
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.400 strong 1.000 1 2014 2014
Acrofacial dysostosis Rodriguez type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 6 1 2007 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 2007 2016
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs
disease Congenital Abnormality 3 0.100 None 0
CUI: C1835148
Disease: Sparse lower eyelashes
Sparse lower eyelashes
phenotype Finding 3 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid
phenotype Disease or Syndrome 4 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
phenotype Finding 12 4 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia
phenotype Finding 16 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 24 1 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia
disease Congenital Abnormality 7 2 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0920299
Disease: Overriding toe
Overriding toe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb
disease Anatomical Abnormality 11 5 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 1