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: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		disease Anatomical Abnormality 34 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2016 2016
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: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 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: 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: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2018 2018
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype Finding 45 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: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		phenotype Congenital Abnormality 6 0.100 None 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0