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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 2
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 2
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 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: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 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: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 8
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 2
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 1
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 1
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21 		DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 1
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease 0.100 None 0 1