Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.600 Biomarker disease CTD_human
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease HPO
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.300 Biomarker disease MGD
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 CausalMutation disease CLINVAR
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.130 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.110 Biomarker disease HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.110 CausalMutation phenotype CLINVAR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		0.100 CausalMutation disease CLINVAR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation disease CLINVAR
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 CausalMutation disease CLINVAR
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation phenotype CLINVAR
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 CausalMutation disease CLINVAR
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.100 CausalMutation phenotype CLINVAR