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: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
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: C1866231
Disease: Full cheeks
Full cheeks 		0.100 Biomarker phenotype HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
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: 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: 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease 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: 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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 Biomarker group BEFREE This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. 28475857 2017
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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE In addition, these LMW isoforms are biochemically hyperactive, shown by their ability to phosphorylate substrates such as histone H1 4 fold more in cells transfected with T1 or T2 versus cells transfected with the full length form. 12963845 2004
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: 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