Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.400 Biomarker phenotype GENOMICS_ENGLAND The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. 30244542 2018
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.400 Biomarker phenotype HPO
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation phenotype CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		0.100 CausalMutation phenotype CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		0.100 Biomarker phenotype HPO
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN 		0.100 Biomarker phenotype HPO
Entrez Id: 92002
Gene Symbol: CCNQ
CCNQ 		0.100 Biomarker phenotype HPO
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		0.100 Biomarker phenotype HPO
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.100 Biomarker phenotype HPO
Entrez Id: 11113
Gene Symbol: CIT
CIT 		0.100 Biomarker phenotype HPO
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 Biomarker phenotype HPO
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		0.100 Biomarker phenotype HPO
Entrez Id: 8214
Gene Symbol: DGCR6
DGCR6 		0.100 Biomarker phenotype HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1 		0.100 Biomarker phenotype HPO
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.100 Biomarker phenotype HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.100 Biomarker phenotype HPO
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		0.100 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		0.100 Biomarker phenotype HPO
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		0.100 Biomarker phenotype HPO