Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PHF8 Q9UPP1 PHD finger protein 8 1.00 0.631 0.577
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538