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: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
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
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation phenotype CLINVAR Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. 25081361 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation phenotype CLINVAR H1 histones: current perspectives and challenges. 23945933 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 GeneticVariation phenotype CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.100 Biomarker disease HPO
CUI: C0027960
Disease: Nevus
Nevus
0.100 Biomarker disease HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
0.010 GeneticVariation disease BEFREE We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10(-16)) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10(-16); rs11754464 in MSH5: OR = 1.78, P = 3.71 × 10(-7)) associated with NOA risk after Bonferroni correction. 26199320 2015
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome
0.010 Biomarker disease BEFREE The physical features of the proposita were essentially the same as those observed in patients with the aforementioned HIST1H1E-related overgrowth syndrome. 29383847 2018
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
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation group BEFREE Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review. 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: 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: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus
0.100 Biomarker phenotype HPO