Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 91869
Gene Symbol: RFT1
RFT1 		RFT1 homolog 0.700 0.500 3.7E-13
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 2
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 1