Disease: Long philtrum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
TMEM70 Q9BUB7 transmembrane protein 70 2.9E-02 0.636 0.654
CXorf56 Q9H5V9 chromosome X open reading frame 56 0.95 0.705 0.385
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
CCDC8 Q9H0W5 coiled-coil domain containing 8 0.25 0.599 0.692
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ZNF81 P51508 zinc finger protein 81 0.55 0.705 0.385
USP27X A6NNY8 ubiquitin specific peptidase 27 X-linked 0.92 0.705 0.462
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
PPP2R3C Q969Q6 protein phosphatase 2 regulatory subunit B''gamma Enzyme 6.8E-09 0.700 0.538
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654