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: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		disease 0.750 None 0.900 4 17 2009 2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.400 None 1.000 0 1 2012 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 5 1 2012 2016
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 5 2 2012 2016
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 1