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: 65217
Gene Symbol: PCDH15
PCDH15
Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 12
Entrez Id: 57647
Gene Symbol: DHX37
DHX37
Q8IY37 DEAH-box helicase 37 Enzyme 13 0.792 0.385 0.99 0.100 None 0 1
Entrez Id: 57511
Gene Symbol: COG6
COG6
Q9Y2V7 component of oligomeric golgi complex 6 62 0.644 0.577 6.4E-16 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
Q9ULL5 proline rich 12 35 0.716 0.385 1.00 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 12
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
Q8NEZ4 lysine methyltransferase 2C 114 0.558 0.692 1.00 0.100 None 0 1
Entrez Id: 58538
Gene Symbol: MPP4
MPP4
Q96JB8 membrane palmitoylated protein 4 Enzyme 12 0.792 0.308 3.4E-18 0.100 None 0 1
Entrez Id: 5881
Gene Symbol: RAC3
RAC3
P60763 Rac family small GTPase 3 Enzyme modulator 44 0.682 0.423 2.6E-03 0.100 None 0 2
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
P51688 N-sulfoglucosamine sulfohydrolase Enzyme 80 0.638 0.692 1.0E-04 0.100 None 0 1
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 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 0 1
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.100 None 0 1
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
Q7Z392 trafficking protein particle complex 11 79 0.650 0.500 4.6E-10 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Q92963 Ras like without CAAX 1 Enzyme modulator 184 0.527 0.808 0.13 0.100 None 0 1
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
Q96EK4 THAP domain containing 11 23 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
Q9GZU1 mucolipin 1 Ion channel 102 0.601 0.654 5.8E-04 0.100 None 0 2
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
Q9NQ89 chromosome 12 open reading frame 4 49 0.691 0.308 1.1E-05 0.100 None 0 1