Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.100 None 0 0
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 95 0.590 0.654 8.1E-02 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		Q6DN12 multiple C2 and transmembrane domain containing 2 71 0.623 0.577 6.0E-52 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		Q02750 mitogen-activated protein kinase kinase 1 Kinase 389 0.439 0.846 0.90 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		P36507 mitogen-activated protein kinase kinase 2 Kinase 177 0.534 0.731 0.97 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2 		P78367 NK3 homeobox 2 Transcription factor 31 0.736 0.308 0.64 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2 		P35250 replication factor C subunit 2 Enzyme 206 0.520 0.769 2.2E-06 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 6424
Gene Symbol: SFRP4
SFRP4 		Q6FHJ7 secreted frizzled related protein 4 155 0.524 0.654 9.3E-05 0.100 None 0 0
Entrez Id: 55081
Gene Symbol: IFT57
IFT57 		Q9NWB7 intraflagellar transport 57 Enzyme modulator 31 0.716 0.308 3.3E-10 0.100 None 0 0
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		Q9NX62 inositol monophosphatase domain containing 1 Enzyme 36 0.700 0.385 1.5E-02 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		Q96HA7 tonsoku like, DNA repair protein 67 0.653 0.615 2.6E-13 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		Q04721 notch receptor 2 384 0.441 0.808 1.00 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL 		Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 184 0.553 0.731 1.00 0.100 None 0 0
Entrez Id: 4998
Gene Symbol: ORC1
ORC1 		Q13415 origin recognition complex subunit 1 Nucleic acid binding 103 0.595 0.654 1.7E-14 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 97 0.601 0.500 3.2E-09 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 247 0.498 0.808 5.0E-08 0.100 None 0 0
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		Q9ULC3 RAB23, member RAS oncogene family 144 0.541 0.654 5.6E-03 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0