Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 8 4
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500 17 14
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731 28 3
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538 16 10
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500 11 3
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731 21 69
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692 11 16
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692 39 55
FAM177A1 Q8N128 family with sequence similarity 177 member A1 Enzyme 1.2E-03 0.769 0.231 3 1
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538 7 2
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654 38 16
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 29 51