Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.110 GeneticVariation 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
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.110 Biomarker HPO

Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation 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
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 CausalMutation 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
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 84464
Gene Symbol: SLX4
SLX4
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation CLINVAR

Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker HPO