Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
FAM120AOS Q5T036 family with sequence similarity 120A opposite strand 2.2E-02 0.861 0.154