Type	Entity	Source evidence	Confidence	Extractor
gene	HOXA1	“The patient had no mutation found by Sanger sequencing of HOXA1, KIF21A, SALL4, and CHN1.”	0.98	hgnc_dict_v1
phenotype	congenital heart disease	“RESULTS: The patient had bilateral type 1 DRS, fusion of almost the entire cervical spine, and bilateral severe sensorineural hearing loss due to bilateral cochlear dysplasia; he also had congenital heart disease requiring surgery.”	0.98	phenotype_alias_lexicon_v2
gene	KIF21A	“The patient had no mutation found by Sanger sequencing of HOXA1, KIF21A, SALL4, and CHN1.”	0.98	hgnc_dict_v1
gene	SALL4	“The patient had no mutation found by Sanger sequencing of HOXA1, KIF21A, SALL4, and CHN1.”	0.98	hgnc_dict_v1

PMID 18412118 | PMCID PMC3517166 | DOI 10.1002/ajmg.a.32262 · American journal of medical genetics. Part A · 2008 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HOXA1	“The clinical spectrum of homozygous HOXA1 mutations.”	0.98	hgnc_dict_v1
phenotype	congenital heart disease	“Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations.”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations.”	0.93	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“Two ABDS probands had relatively mild mental retardation.”	0.93	phenotype_alias_lexicon_v2