Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
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
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
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
CUL3 Q13618 cullin 3 1.00 0.592 0.654