ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 Biomarker disease CTD_human
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		0.730 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0030554
Disease: Paresthesia
Paresthesia 		0.100 Biomarker phenotype HPO
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 Biomarker group HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.100 Biomarker disease HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.100 Biomarker disease HPO
CUI: C0232488
Disease: Abdominal colic
Abdominal colic 		0.100 Biomarker phenotype HPO
CUI: C1848702
Disease: Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		0.100 Biomarker phenotype HPO
CUI: C4016013
Disease: PORPHYRIA, ACUTE HEPATIC, DIGENIC
PORPHYRIA, ACUTE HEPATIC, DIGENIC 		0.100 CausalMutation disease CLINVAR
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.080 AlteredExpression group BEFREE Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity approximately 2% of the physiological level) has been characterized in erythrocytes after DEAE cellulose chromatography, ultrafiltration and polyacrylamide gel electrophoresis: Residual specific activity of 2.5%, increase of Km, but identical fractionation, concentration and electrophoretic mobility of the enzyme protein compared to controls. 7287003 1981