rs886043994, ASXL1

N. diseases: 21
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
0.700 CausalMutation CLINVAR
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 CausalMutation CLINVAR
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Sleep Apnea Syndromes
CUI: C0037315
Disease: Sleep Apnea Syndromes
0.700 CausalMutation CLINVAR
Thick hair
CUI: C4073184
Disease: Thick hair
0.700 CausalMutation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Ulnar deviation of the wrist
CUI: C0231678
Disease: Ulnar deviation of the wrist
0.700 CausalMutation CLINVAR
Bohring syndrome
CUI: C0796232
Disease: Bohring syndrome
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 CausalMutation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 CausalMutation CLINVAR
Full cheeks
CUI: C1866231
Disease: Full cheeks
0.700 CausalMutation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
Synophrys
CUI: C0431447
Disease: Synophrys
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
0.700 CausalMutation CLINVAR