KLC4, kinesin light chain 4, 89953

N. diseases: 31; N. variants: 8
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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.310 limited 1.000 1 2015 2015
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 1.000 1 1 2019 2019
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 1.000 1 2 2019 2019
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 1.000 1 1 2019 2019
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		phenotype Finding 7 1 0.100 None 1.000 1 1 2019 2019
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 1.000 1 3 2019 2019
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 11 0.100 None 1.000 1 7 2019 2019
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 1.000 1 1 2019 2019
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 1 2 2019 2019
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 5 0.100 None 1.000 1 1 2019 2019
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 1.000 1 4 2019 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 4 2019 2019
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 1.000 1 1 2019 2019
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		disease Anatomical Abnormality 12 1 0.100 None 1.000 1 1 2019 2019
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 1.000 1 4 2019 2019
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 1.000 1 4 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 1.000 1 3 2019 2019
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 1.000 1 1 2019 2019
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 1.000 1 2 2019 2019
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 1.000 1 1 2019 2019
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease Anatomical Abnormality 15 2 0.100 None 1.000 1 1 2019 2019
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 1.000 1 3 2019 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None < 0.001 1 2018 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2018 2018