rs1009298200, ALG1

N. diseases: 34
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tachycardia
CUI: C0039231
Disease: Tachycardia
0.700 GeneticVariation CLINVAR
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
0.700 GeneticVariation CLINVAR
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
0.700 GeneticVariation CLINVAR
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
0.700 GeneticVariation CLINVAR
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
0.700 GeneticVariation CLINVAR
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
0.700 GeneticVariation CLINVAR
Premature adrenarche
CUI: C0342546
Disease: Premature adrenarche
0.700 GeneticVariation CLINVAR
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
0.700 GeneticVariation CLINVAR
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
0.700 GeneticVariation CLINVAR
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 GeneticVariation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Dysphasia
CUI: C0973461
Disease: Dysphasia
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
Moderate intrauterine growth retardation
CUI: C4023370
Disease: Moderate intrauterine growth retardation
0.700 GeneticVariation CLINVAR
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
0.700 GeneticVariation CLINVAR
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
0.700 GeneticVariation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 GeneticVariation CLINVAR
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
0.700 GeneticVariation CLINVAR
Temperature instability
CUI: C1820737
Disease: Temperature instability
0.700 GeneticVariation CLINVAR