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: C1860119
Disease: Acrofacial dysostosis Rodriguez type
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: 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: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid 		phenotype Disease or Syndrome 4 0.100 None 0
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		disease Congenital Abnormality 5 0.100 None 0
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: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		phenotype Congenital Abnormality 6 0.100 None 0
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.020 None 1.000 2 2014 2016
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		disease Congenital Abnormality 7 2 0.100 None 0
CUI: C0031575
Disease: Phocomelia
Phocomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 1 0.100 None 0
CUI: C4281601
Disease: Foot oligodactyly
Foot oligodactyly 		phenotype Anatomical Abnormality 9 1 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: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype Finding 12 4 0.100 None 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2016 2016
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 16 0.100 None 0
CUI: C0041105
Disease: Trismus
Trismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61 0.100 None 0 1
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease Disease or Syndrome 25 4 0.100 None 0 1
CUI: C0728895
Disease: Absent finger
Absent finger 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0