Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
RASGEF1B Q0VAM2 RasGEF domain family member 1B Enzyme modulator 0.92 0.821 0.154 9 3
NIPA2 Q8N8Q9 NIPA magnesium transporter 2 Transporter 0.92 0.805 0.192 10 2
TUBGCP5 Q96RT8 tubulin gamma complex associated protein 5 Cellular structure 1.2E-12 0.769 0.346 13 0
SHC2 P98077 SHC adaptor protein 2 Signaling 2.1E-14 0.729 0.385 20 0
UPB1 Q9UBR1 beta-ureidopropionase 1 Enzyme 7.4E-12 0.722 0.346 21 11
ABCD2 Q9UBJ2 ATP binding cassette subfamily D member 2 Transporter 4.7E-06 0.711 0.500 25 0
PLPBP O94903 pyridoxal phosphate binding protein 4.0E-02 0.736 0.231 31 6
MSD microcephaly with spastic diplegia (Paine syndrome) 0.674 0.654 35 0
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423 37 1
MANBA O00462 mannosidase beta Enzyme 1.3E-18 0.736 0.462 38 58
MLX Q9UH92 MAX dimerization protein MLX 0.11 0.722 0.346 40 5
CDK5RAP2 Q96SN8 CDK5 regulatory subunit associated protein 2 4.6E-23 0.682 0.577 42 20
FOXI1 Q12951 forkhead box I1 Transcription factor 0.77 0.686 0.462 42 9
IFT27 Q9BW83 intraflagellar transport 27 5.9E-06 0.670 0.462 45 3
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500 46 7
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462 47 29
RNF216 Q9NWF9 ring finger protein 216 2.3E-06 0.670 0.615 47 9
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500 47 7
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 49 43
ABCB7 O75027 ATP binding cassette subfamily B member 7 Transporter 1.00 0.678 0.385 49 7
SAMD9L Q8IVG5 sterile alpha motif domain containing 9 like 5.6E-15 0.700 0.500 49 6
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500 50 9
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462 50 0
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577 51 16