Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6138
Gene Symbol: RPL15
RPL15 		0.400 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
Entrez Id: 6138
Gene Symbol: RPL15
RPL15 		0.400 Biomarker disease HPO
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		0.300 Biomarker disease GENOMICS_ENGLAND RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		0.300 Biomarker disease GENOMICS_ENGLAND Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 1746615 1991
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		0.120 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		0.120 GeneticVariation disease BEFREE Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. 28889454 2017
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.120 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.120 GeneticVariation disease BEFREE A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene at human chromosome 7q36.3. 18463159 2008
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		0.120 Biomarker disease HPO
Entrez Id: 6469
Gene Symbol: SHH
SHH 		0.120 Biomarker disease HPO
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		0.120 CausalMutation disease CLINVAR
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation disease CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation disease CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker disease HPO
Entrez Id: 9935
Gene Symbol: MAFB
MAFB 		0.100 Biomarker disease HPO
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		0.100 Biomarker disease HPO
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.100 Biomarker disease HPO
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.100 Biomarker disease HPO
Entrez Id: 55120
Gene Symbol: FANCL
FANCL 		0.100 Biomarker disease HPO
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		0.100 Biomarker disease HPO
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.100 Biomarker disease HPO
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.100 Biomarker disease HPO
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.100 Biomarker disease HPO
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		0.100 Biomarker disease HPO