KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.910 Biomarker disease CTD_human
CUI: C1845243
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE 		0.910 CausalMutation disease CLINVAR
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.600 CausalMutation disease CGI
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.440 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation disease CLINVAR
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.120 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 CausalMutation disease CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		0.100 Biomarker disease HPO
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		0.100 CausalMutation disease CLINVAR