Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5081
Gene Symbol: PAX7
PAX7 		0.300 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 31092906 2019
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. 30929742 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: 23065
Gene Symbol: EMC1
EMC1 		0.100 GeneticVariation phenotype CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		0.100 GeneticVariation phenotype CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		0.100 GeneticVariation phenotype CLINVAR Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. 26942288 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A 		0.100 Biomarker phenotype HPO
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2 		0.100 Biomarker phenotype HPO
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3 		0.100 Biomarker phenotype HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.100 Biomarker phenotype HPO
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		0.100 Biomarker phenotype HPO
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.100 Biomarker phenotype HPO
Entrez Id: 56160
Gene Symbol: NSMCE3
NSMCE3 		0.100 Biomarker phenotype HPO
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		0.100 Biomarker phenotype HPO
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2 		0.100 Biomarker phenotype HPO
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A 		0.100 Biomarker phenotype HPO
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.100 Biomarker phenotype HPO
Entrez Id: 51506
Gene Symbol: UFC1
UFC1 		0.100 Biomarker phenotype HPO
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.100 Biomarker phenotype HPO
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		0.100 Biomarker phenotype HPO
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		0.100 Biomarker phenotype HPO
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		0.100 Biomarker phenotype HPO