Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502492
Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive
Microcephaly with Chorioretinopathy, Autosomal Recessive 		0.500 GermlineCausalMutation disease ORPHANET Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3502492
Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive
Microcephaly with Chorioretinopathy, Autosomal Recessive 		0.500 Biomarker disease CTD_human
CUI: C3278481
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 		0.400 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3278481
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 		0.400 GeneticVariation disease CLINVAR
CUI: C3278481
Disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 		0.400 CausalMutation disease CLINVAR
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE The TUBCGP5 gene (tubulin gamma complex associated protein 5) is a paralog of TUBGCP4 and TUBGCP6, both of which are known MCPH associated genes, and like its' paralogs, is involved in centrosome formation. 30543990 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0024966
Disease: Maximal Midexpiratory Flow Rate
Maximal Midexpiratory Flow Rate 		0.100 GeneticVariation phenotype GWASCAT Gene network analysis in a pediatric cohort identifies novel lung function genes. 24023788 2013
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
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: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding) 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO