Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.110 GeneticVariation disease BEFREE Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E. We describe two large Han Chinese families with different limb malformations, one with syndactyly type V and the other with limb features overlapping brachydactyly types A4, D, and E and mild syndactyly of toes 2 and 3. 17236141 2007
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.110 Biomarker disease HPO
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation disease CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation disease CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1 		0.100 GeneticVariation disease CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688 2017
Entrez Id: 11043
Gene Symbol: MID2
MID2 		0.100 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.100 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker disease HPO
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.100 Biomarker disease HPO
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4 		0.100 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker disease HPO
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		0.100 Biomarker disease HPO
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		0.100 Biomarker disease HPO
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		0.100 Biomarker disease HPO
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		0.100 Biomarker disease HPO
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 Biomarker disease HPO
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		0.100 Biomarker disease HPO
Entrez Id: 284252
Gene Symbol: KCTD1
KCTD1 		0.100 Biomarker disease HPO
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10020
Gene Symbol: GNE
GNE 		0.100 Biomarker disease HPO
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation disease CLINVAR