Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B 		0.310 GeneticVariation disease BEFREE Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C > T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus (CDI). 31012281 2019
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B 		0.310 Biomarker disease GENOMICS_ENGLAND Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. 10955477 2000
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.300 Biomarker disease GENOMICS_ENGLAND Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 50945
Gene Symbol: TBX22
TBX22 		0.300 Biomarker disease GENOMICS_ENGLAND X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 22784330 2013
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.300 Biomarker disease GENOMICS_ENGLAND Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 19685247 2009
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		0.100 Biomarker disease HPO
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		0.100 Biomarker disease HPO
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker disease HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.100 Biomarker disease HPO
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		0.100 Biomarker disease HPO
Entrez Id: 5053
Gene Symbol: PAH
PAH 		0.100 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1 		0.100 Biomarker disease HPO
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 Biomarker disease HPO
Entrez Id: 23529
Gene Symbol: CLCF1
CLCF1 		0.100 Biomarker disease HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.100 Biomarker disease HPO
Entrez Id: 5977
Gene Symbol: DPF2
DPF2 		0.100 Biomarker disease HPO
Entrez Id: 4040
Gene Symbol: LRP6
LRP6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.100 Biomarker disease HPO
Entrez Id: 4692
Gene Symbol: NDN
NDN 		0.100 Biomarker disease HPO
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.100 Biomarker disease HPO
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 CausalMutation disease CLINVAR