rs782736894, BPTF

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Broad hallux
CUI: C1867131
Disease: Broad hallux
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Premature eruption of permanent teeth
CUI: C4021601
Disease: Premature eruption of permanent teeth
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Thick lower lip vermilion
CUI: C1839739
Disease: Thick lower lip vermilion
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Protruding ear
CUI: C1855285
Disease: Protruding ear
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Long nose
CUI: C1839798
Disease: Long nose
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Mild global developmental delay
CUI: C4012968
Disease: Mild global developmental delay
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
0.700 CausalMutation CLINVAR