KLHL7, kelch like family member 7, 55975

N. diseases: 31; N. variants: 13
Source: CLINVAR ×
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: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 3 0.700 None 1.000 0 3 2009 2011
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		disease Disease or Syndrome 1 6 0.600 strong 1.000 0 6 2016 2016
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 10 0.600 None 1.000 0 4 2016 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 88 420 0.430 strong 1.000 0 3 2009 2017
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 37 49 0.100 None 0 1
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 6 6 0.100 None 0 1
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 12 10 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 1
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 25 25 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 17 19 0.100 None 0 1
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype Finding 5 4 0.100 None 0 1
CUI: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		group Musculoskeletal Diseases Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 15 19 0.100 None 0 1
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 10 16 0.100 None 0 1
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 12 0.100 None 0 1
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 16 17 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 63 77 0.100 None 0 1
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 28 39 0.100 None 0 1
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 3 3 0.100 None 0 1
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		phenotype Sign or Symptom 5 9 0.100 None 0 3
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 8 8 0.100 None 0 1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 46 66 0.100 None 0 1
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 9 0.100 None 0 1
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 26 32 0.100 None 0 1