Disease: Multiple congenital anomalies
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731