Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C1839798
Disease: Long nose
Long nose 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C1867131
Disease: Broad hallux
Broad hallux 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C1855285
Disease: Protruding ear
Protruding ear 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C4021601
Disease: Premature eruption of permanent teeth
Premature eruption of permanent teeth 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		G 0.700 CausalMutation CLINVAR