Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Potocki-Shaffer syndrome PHF21A disease C1832588 ChromosomalRearrangement 0.55 orphanet , disgenet
Potocki-Shaffer syndrome PHF21A disease C1832588 Biomarker 0.55 orphanet , disgenet
Potocki-Shaffer syndrome ALX4 disease C1832588 Biomarker 0.34 orphanet , disgenet
Potocki-Shaffer syndrome EXT2 disease C1832588 ChromosomalRearrangement 0.34 orphanet , disgenet
Potocki-Shaffer syndrome EXT2 disease C1832588 GeneticVariation 0.34 orphanet , disgenet
Potocki-Shaffer syndrome EXT2 disease C1832588 Biomarker 0.34 orphanet , disgenet
Potocki-Shaffer syndrome ALX4 disease C1832588 ChromosomalRearrangement 0.34 orphanet , disgenet
Potocki-Shaffer syndrome ALX4 disease C1832588 GeneticVariation 0.34 orphanet , disgenet
Potocki-Shaffer syndrome PSS disease C1832588 Biomarker 0.03 disgenet
Potocki-Shaffer syndrome PSS disease C1832588 GeneticVariation 0.03 disgenet
Potocki-Shaffer syndrome TNF disease C1832588 AlteredExpression 0.02 disgenet
Potocki-Shaffer syndrome TNF disease C1832588 Biomarker 0.02 disgenet
Potocki-Shaffer syndrome IFNG disease C1832588 Biomarker 0.02 disgenet
Potocki-Shaffer syndrome TNFSF13B disease C1832588 Biomarker 0.02 disgenet
Potocki-Shaffer syndrome MSX2 disease C1832588 GeneticVariation 0.02 disgenet
Potocki-Shaffer syndrome IL17A disease C1832588 Biomarker 0.02 disgenet
Potocki-Shaffer syndrome CXCL10 disease C1832588 AlteredExpression 0.02 disgenet
Potocki-Shaffer syndrome TNFSF13B disease C1832588 AlteredExpression 0.02 disgenet
Potocki-Shaffer syndrome IFNG disease C1832588 AlteredExpression 0.02 disgenet
Potocki-Shaffer syndrome MSX2 disease C1832588 Biomarker 0.02 disgenet
Potocki-Shaffer syndrome CNTRL disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome CST4 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome IL11 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome CCR8 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome BTG3 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome TRAF6 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome TUBA1C disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome DIABLO disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome SS18L1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome SSB disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome IFNA13 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome IL10 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome IFNA1 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome BST2 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome HLA-DQB1 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome TLR3 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome CCL25 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome STAT5A disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome NR0B1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome CDSN disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome PMP22 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome FAM167A disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome SSNA1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome FCRL4 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome ATN1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome TLR2 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome IL22 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome TLR4 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome GTF2I disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome IL2 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome HLA-DRB1 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome VIP disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome KLRB1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome CD28 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome BLK disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome STAT3 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome HLA-B disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome HLA-C disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome GPI disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome TLR9 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome MMP9 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome CST3 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome IL6 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome IFNL1 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome RBMS3 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome MPZ disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome STAT5B disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome CDC42EP1 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome VIPR2 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome EDA disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome IL13 disease C1832588 Biomarker 0.01 disgenet
Potocki-Shaffer syndrome RO60 disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome HLA-A disease C1832588 GeneticVariation 0.01 disgenet
Potocki-Shaffer syndrome IRAK1 disease C1832588 AlteredExpression 0.01 disgenet
Potocki-Shaffer syndrome CHST8 disease C1832588 GeneticVariation 0.01 disgenet
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