Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		disease 0.710 None 1.000 4 11 1990 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.120 None 1.000 10 2 2005 2019
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.110 None 1.000 0 2 2018 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 2 2018 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C4017260
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS 		disease 0.100 None 0 1
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0431447
Disease: Synophrys
Synophrys 		disease 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0542223
Disease: Loss of speech
Loss of speech 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		disease 0.100 None 0 2