KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human The mutational landscape of adenoid cystic carcinoma. 23685749 2013
CUI: C1860789
Disease: Leukemia, Megakaryoblastic, of Down Syndrome
Leukemia, Megakaryoblastic, of Down Syndrome 		0.300 Biomarker disease CTD_human The landscape of somatic mutations in Down syndrome-related myeloid disorders. 24056718 2013
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.300 Biomarker disease CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.300 Biomarker disease CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion 		0.300 Biomarker disease CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion 		0.300 Biomarker disease CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. 29352316 2018