H1-4, H1.4 linker histone, cluster member, 3008

N. diseases: 34; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479637
Disease: RAHMAN SYNDROME
RAHMAN SYNDROME
0.400 GeneticVariation disease CLINVAR
CUI: C4479637
Disease: RAHMAN SYNDROME
RAHMAN SYNDROME
0.400 Biomarker disease GENOMICS_ENGLAND Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C4479637
Disease: RAHMAN SYNDROME
RAHMAN SYNDROME
0.400 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 Biomarker disease BEFREE Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13,689 cases and 18,226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome. 25048004 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 Biomarker disease PSYGENET Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13,689 cases and 18,226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome. 25048004 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
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: C0004106
Disease: Astigmatism
Astigmatism
0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 Biomarker disease HPO
CUI: C0027960
Disease: Nevus
Nevus
0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. 25081361 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR H1 histones: current perspectives and challenges. 23945933 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.100 Biomarker disease HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE While the mechanism of how haploinsufficiency of HIST1H1E causes autism is entirely unknown, our report underscores the importance of further study of the function of this protein and other histone linker proteins in brain development. 29704315 2018
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.010 Biomarker disease BEFREE Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. 31447100 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 Biomarker disease BEFREE These results indicate that the AC inhibitor in the pancreatic cancer extract is histone H1b or H1d and histones H2A, H2B and H3 also have an AC inhibitory activity. 2018521 1991