Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		0.400 Biomarker phenotype GENOMICS_ENGLAND We report that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which we propose the acronym FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth). 30290154 2018
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		0.400 Biomarker phenotype HPO
Entrez Id: 1855
Gene Symbol: DVL1
DVL1 		0.100 Biomarker phenotype HPO
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3 		0.100 Biomarker phenotype HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker phenotype HPO
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 Biomarker phenotype HPO
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		0.100 Biomarker phenotype HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 Biomarker phenotype HPO
Entrez Id: 4926
Gene Symbol: NUMA1
NUMA1 		0.100 Biomarker phenotype HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		0.100 Biomarker phenotype HPO
Entrez Id: 5371
Gene Symbol: PML
PML 		0.100 Biomarker phenotype HPO
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5277
Gene Symbol: PIGA
PIGA 		0.100 Biomarker phenotype HPO
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.100 Biomarker phenotype HPO
Entrez Id: 94005
Gene Symbol: PIGS
PIGS 		0.100 Biomarker phenotype HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		0.100 Biomarker phenotype HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		0.100 Biomarker phenotype HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4 		0.100 Biomarker phenotype HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1 		0.100 Biomarker phenotype HPO
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		0.100 Biomarker phenotype HPO
Entrez Id: 5914
Gene Symbol: RARA
RARA 		0.100 Biomarker phenotype HPO
Entrez Id: 175
Gene Symbol: AGA
AGA 		0.100 Biomarker phenotype HPO
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		0.100 Biomarker phenotype HPO