Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 34 84
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 16 147
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538 11 19
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 5 32
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 5 18
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808 7 17
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731 4 10
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846 3 4
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654 9 12
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 10 12
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692 7 15
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
ANOS1 P23352 anosmin 1 1.00 0.537 0.769 7 17
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 4 8
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
ATP6V1B1 P15313 ATPase H+ transporting V1 subunit B1 Transporter 2.4E-09 0.695 0.346 6 9
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 44 57
ATP8B1 O43520 ATPase phospholipid transporting 8B1 Transporter 2.8E-10 0.610 0.500 5 12
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 29 36