rs1553655558, TRIP12

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Constipation
CUI: C0009806
Disease: Constipation
0.700 CausalMutation CLINVAR
Broad toe
CUI: C1865038
Disease: Broad toe
0.700 CausalMutation CLINVAR
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Fragile nails
CUI: C1856963
Disease: Fragile nails
0.700 CausalMutation CLINVAR
Apnea
CUI: C0003578
Disease: Apnea
0.700 CausalMutation CLINVAR
Head Banging
CUI: C0018672
Disease: Head Banging
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Trigonocephaly
CUI: C0265535
Disease: Trigonocephaly
0.700 CausalMutation CLINVAR
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
0.700 CausalMutation CLINVAR
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
0.700 CausalMutation CLINVAR
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
0.700 CausalMutation CLINVAR
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
0.700 CausalMutation CLINVAR
Growth delay
CUI: C0456070
Disease: Growth delay
0.700 CausalMutation CLINVAR
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 CausalMutation CLINVAR
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
0.700 CausalMutation CLINVAR
Hoarseness
CUI: C0019825
Disease: Hoarseness
0.700 CausalMutation CLINVAR
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
0.700 CausalMutation CLINVAR
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
0.700 CausalMutation CLINVAR
Short philtrum
CUI: C1861324
Disease: Short philtrum
0.700 CausalMutation CLINVAR
Tachypnea
CUI: C0231835
Disease: Tachypnea
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR