Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
CUL3 Q13618 cullin 3 1.00 0.592 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538