rs312262690, ANTXR2

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.700 CausalMutation CLINVAR
Contracture of joint of thumb
CUI: C0409346
Disease: Contracture of joint of thumb
0.700 CausalMutation CLINVAR
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
0.700 CausalMutation CLINVAR
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
0.700 CausalMutation CLINVAR
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
0.700 CausalMutation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
0.700 CausalMutation CLINVAR
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.700 CausalMutation CLINVAR
Thick upper lip vermilion
CUI: C1846423
Disease: Thick upper lip vermilion
0.700 CausalMutation CLINVAR
Leukocytosis
CUI: C0023518
Disease: Leukocytosis
0.700 CausalMutation CLINVAR
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
0.700 CausalMutation CLINVAR
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
0.700 CausalMutation CLINVAR
Abnormal pigmentation
CUI: C1260926
Disease: Abnormal pigmentation
0.700 CausalMutation CLINVAR
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
0.700 CausalMutation CLINVAR
Abnormality of skin morphology
CUI: C4023528
Disease: Abnormality of skin morphology
0.700 CausalMutation CLINVAR
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
0.700 CausalMutation CLINVAR
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
0.700 CausalMutation CLINVAR
Delayed speech and language development
0.700 CausalMutation CLINVAR
Hyalinosis, Systemic
CUI: C2745948
Disease: Hyalinosis, Systemic
0.700 CausalMutation CLINVAR
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
0.700 CausalMutation CLINVAR
Generalized bone demineralization
CUI: C1833326
Disease: Generalized bone demineralization
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR