Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TTN-AS1 TTN antisense RNA 1 0.599 0.577
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
SPRED1 Q7Z699 sprouty related EVH1 domain containing 1 Receptor 0.97 0.644 0.577
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
SON P18583 SON DNA binding protein 1.00 0.565 0.769