HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838654
Disease: Nivelon Nivelon Mabille syndrome
Nivelon Nivelon Mabille syndrome 		0.500 GermlineCausalMutation disease ORPHANET Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. 24784881 2014
CUI: C1838654
Disease: Nivelon Nivelon Mabille syndrome
Nivelon Nivelon Mabille syndrome 		0.500 Biomarker disease MGD Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. 24784881 2014
CUI: C1838654
Disease: Nivelon Nivelon Mabille syndrome
Nivelon Nivelon Mabille syndrome 		0.500 Biomarker disease MGD Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects. 23055936 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 Biomarker disease PSYGENET We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus. 23142968 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease BEFREE We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus. 23142968 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus. 23142968 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASDB We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus. 23142968 2013
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum. 25405613 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of lung function and clinical implication in heavy smokers. 30068317 2018
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of lung function and clinical implication in heavy smokers. 30068317 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. 24784881 2014
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.100 GeneticVariation disease GWASCAT Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. 23749187 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects. 23055936 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog. 18534984 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates. 15075292 2004
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0020496
Disease: Hyperostosis of skull
Hyperostosis of skull 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0026205
Disease: Miosis disorder
Miosis disorder 		0.100 Biomarker disease HPO