Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401778
rs1135401778
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4540327
Disease:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555639411
rs1555639411
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4540327
Disease:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs1555652383
rs1555652383
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4540327
Disease:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555693714
rs1555693714
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4540327
Disease:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		T 0.700 CausalMutation CLINVAR
dbSNP: rs782736894
rs782736894
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4540327
Disease:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		G 0.700 CausalMutation CLINVAR