Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271902
Disease: Microcytic normochromic anemia
Microcytic normochromic anemia 		0.100 Biomarker disease HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.100 Biomarker disease HPO
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.100 Biomarker disease HPO
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		0.100 Biomarker disease HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 Biomarker disease HPO
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		0.100 Biomarker phenotype HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		0.100 Biomarker disease HPO
CUI: C4024932
Disease: Bilateral basal ganglia lesions
Bilateral basal ganglia lesions 		0.100 Biomarker phenotype HPO
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		0.100 Biomarker phenotype HPO
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		0.110 GeneticVariation disease BEFREE 3-Methylglutaconic aciduria is associated with variants in genes encoding mitochondrial inner membrane organizing determinants, including TAZ, DNAJC19, SERAC1 and QIL1/MIC13. 27485409 2016
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		0.110 GeneticVariation disease BEFREE New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. 22797137 2012