NEK1, NIMA related kinase 1, 4750

N. diseases: 131; N. variants: 29
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: C4693523
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 		phenotype Finding 1 4 0.600 moderate 1.000 3 4 2016 2018
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		disease Congenital Abnormality 6 0.110 None 1.000 1 2017 2017
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		phenotype Finding 22 2 0.100 None 0 1
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		phenotype Finding 11 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0399357
Disease: Talon cusp
Talon cusp 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0 1
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		phenotype Finding 14 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis 		disease Congenital Abnormality 5 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype Finding 9 0.100 None 0
CUI: C1855000
Disease: Agenesis of central incisor
Agenesis of central incisor 		phenotype Finding 1 0.100 None 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia 		phenotype Finding 2 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		phenotype Finding 4 1 0.100 None 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype Finding 20 0.100 None 0
CUI: C1861373
Disease: Y-shaped metacarpals
Y-shaped metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C1864785
Disease: Normal kidneys
Normal kidneys 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening 		phenotype Finding 3 0.100 None 0