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: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 0
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 8 0.100 None 0 1
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: C4021824
Disease: Postaxial polysyndactyly of foot
Postaxial polysyndactyly of foot 		disease Congenital Abnormality 3 1 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype Finding 39 0.100 None 0
CUI: C4023175
Disease: Submucous cleft soft palate
Submucous cleft soft palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 11 1 0.100 None 0
CUI: C4025060
Disease: Peg-shaped maxillary lateral incisors
Peg-shaped maxillary lateral incisors 		phenotype Finding 11 0.100 None 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0
CUI: C4315130
Disease: Hippocampal atrophy
Hippocampal atrophy 		phenotype Finding 13 12 0.100 None 0
CUI: C4477070
Disease: Unilateral alveolar cleft of maxilla
Unilateral alveolar cleft of maxilla 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 11 11 0.100 None 0 1
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		disease Anatomical Abnormality 13 1 0.100 None 0 1
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		phenotype Finding 11 0.100 None 0
CUI: C4021336
Disease: Complete duplication of hallux phalanx
Complete duplication of hallux phalanx 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1
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: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 118 24 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