ZSWIM6, zinc finger SWIM-type containing 6, 57688

N. diseases: 95; N. variants: 15
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: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
ACROMELIC FRONTONASAL DYSOSTOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.740 None 1.000 4 1 2014 2017
CUI: C0796182
Disease: Acromelic frontonasal dysplasia
Acromelic frontonasal dysplasia 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C4693405
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 		disease Disease or Syndrome 1 1 0.400 strong 1.000 1 1 2014 2014
CUI: C4021763
Disease: Abnormality of the glabella
Abnormality of the glabella 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024973
Disease: Midline central nervous system lipomas
Midline central nervous system lipomas 		disease Neoplastic Process 1 0.100 None 0
CUI: C1843677
Disease: Large sella turcica
Large sella turcica 		phenotype Finding 3 0.100 None 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate 		disease Congenital Abnormality 3 0.100 None 0
CUI: C1969181
Disease: Aplasia/Hypoplasia of the tibia
Aplasia/Hypoplasia of the tibia 		phenotype Finding 3 0.100 None 0
CUI: C1845370
Disease: Retrocerebellar cyst
Retrocerebellar cyst 		phenotype Finding 4 0.100 None 0
CUI: C4025411
Disease: Midline defect of the nose
Midline defect of the nose 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 1 0.100 None 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 7 3 0.100 None 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C1851059
Disease: Broad columella
Broad columella 		phenotype Finding 10 0.100 None 0
CUI: C1856115
Disease: Happy demeanor
Happy demeanor 		phenotype Finding 10 1 0.100 None 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype Finding 10 5 0.100 None 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 15 2 0.100 None 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease Finding 16 3 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C3839753
Disease: Abnormality of nail of toe
Abnormality of nail of toe 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 26 0.100 None 0
CUI: C0278076
Disease: Behavioral tic
Behavioral tic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 31 2 0.100 None 0