rs1251778848, KMT2D

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
0.700 CausalMutation CLINVAR
Submucous cleft soft palate
CUI: C4023175
Disease: Submucous cleft soft palate
0.700 CausalMutation CLINVAR
Preauricular dimple
CUI: C0266610
Disease: Preauricular dimple
0.700 CausalMutation CLINVAR
Ectopic kidney
CUI: C0238207
Disease: Ectopic kidney
0.700 CausalMutation CLINVAR
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
0.700 CausalMutation CLINVAR
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
0.700 CausalMutation CLINVAR
Progressive sensorineural hearing impairment
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
0.700 CausalMutation CLINVAR
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
0.700 CausalMutation CLINVAR
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
0.700 CausalMutation CLINVAR
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 CausalMutation CLINVAR
Redundant neck skin
CUI: C1840319
Disease: Redundant neck skin
0.700 CausalMutation CLINVAR