Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.110 GeneticVariation disease BEFREE Sixteen features (neonatal hypotonia, neonatal hyporeflexia, neonatal feeding problems, speech/language delay, delayed age at crawling, delayed age at walking, severity of developmental delay, male genital anomalies, dysplastic toenails, large or fleshy hands, macrocephaly, tall stature, facial asymmetry, full brow, atypical reflexes and dolichocephaly) were found to be significantly associated with larger deletion sizes, suggesting the role of additional genes or regulatory regions proximal to SHANK3. 21984749 2011
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.110 Biomarker disease HPO
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Entrez Id: 23118
Gene Symbol: TAB2
TAB2 		0.100 Biomarker disease HPO
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.100 Biomarker disease HPO
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.100 Biomarker disease HPO
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		0.100 Biomarker disease HPO
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		0.100 Biomarker disease HPO
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.100 Biomarker disease HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 Biomarker disease HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.100 Biomarker disease HPO
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		0.100 Biomarker disease HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		0.100 Biomarker disease HPO
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B 		0.100 Biomarker disease HPO
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1 		0.100 Biomarker disease HPO
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		0.100 Biomarker disease HPO
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		0.100 Biomarker disease HPO
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		0.100 Biomarker disease HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 Biomarker disease HPO