Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.780 GeneticVariation disease CLINVAR
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.780 CausalMutation disease CLINVAR
CUI: C3151781
Disease: CK syndrome
CK syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C3151781
Disease: CK syndrome
CK syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C3151781
Disease: CK syndrome
CK syndrome 		0.720 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0004093
Disease: Asthenia
Asthenia 		0.100 Biomarker phenotype HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 Biomarker disease HPO
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.100 Biomarker group HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		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: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO