PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
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: C1846061
Disease: Infancy onset short-trunk short stature
Infancy onset short-trunk short stature 		phenotype Finding 1 0.100 None 0
CUI: C4073246
Disease: Abnormal cricoid cartilage morphology
Abnormal cricoid cartilage morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4280276
Disease: Cleft alveolar process of maxilla
Cleft alveolar process of maxilla 		phenotype Finding 1 0.100 None 0
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		disease Disease or Syndrome 2 11 0.740 None 1.000 6 11 2009 2019
CUI: C4023411
Disease: Hemifacial hypoplasia
Hemifacial hypoplasia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.100 None 0
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		phenotype Finding 3 2 0.100 None 0
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		disease Cardiovascular Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		phenotype Finding 4 0.100 None 0
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		phenotype Finding 4 3 0.100 None 0 1
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 5 2 0.100 None 0
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		disease Congenital Abnormality 5 6 0.100 None 0 1
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C0406645
Disease: Amyopathic dermatomyositis
Amyopathic dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		disease Congenital Abnormality 8 0.100 None 0
CUI: C1832127
Disease: Square face
Square face 		phenotype Finding 8 1 0.100 None 0
CUI: C0006131
Disease: Branchioma
Branchioma 		disease Neoplasms Congenital Abnormality 10 0.100 None 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 0
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 13 1 0.100 None 0 1
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		disease Congenital Abnormality 15 1 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C0037293
Disease: Skin tag
Skin tag 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		phenotype Finding 17 0.100 None 0