JMJD1C, jumonji domain containing 1C, 221037

N. diseases: 214; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.420 Biomarker disease BEFREE CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. 28378413 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.420 Biomarker disease CTD_human Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. 17290275 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.420 Biomarker disease BEFREE Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. 17290275 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.420 Biomarker disease LHGDN Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. 17290275 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.420 Biomarker disease HPO
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.400 GeneticVariation disease GWASDB Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. 22354554 2012
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.400 GeneticVariation disease GWASCAT Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. 22354554 2012
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.400 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.300 GermlineModifyingMutation disease ORPHANET Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. 26608785 2015
CUI: C1333813
Disease: Central Nervous System Germinoma
Central Nervous System Germinoma 		0.300 SusceptibilityMutation disease ORPHANET Novel somatic and germline mutations in intracranial germ cell tumours. 24896186 2014
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: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 Biomarker disease BEFREE Furthermore, JMJD1C restricted formation of RAD51 repair foci, and JMJD1C depletion caused resistance to ionizing radiation and PARP inhibitors, phenotypes relevant to aberrant loss of JMJD1C in subsets of breast carcinomas. 24240613 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 AlteredExpression disease BEFREE Interestingly, the expression of s-JMJD1C is reduced in breast cancer tumors and significantly higher in normal breast tissues indicating a putative role in tumor suppression. 17353003 2007
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019