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: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
O15266 short stature homeobox 138 0.561 0.654 0.67 0.100 None 0 0
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
P81133 SIM bHLH transcription factor 1 Transcription factor 84 0.626 0.654 1.00 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
P12755 SKI proto-oncogene 255 0.503 0.808 1.00 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
P12643 bone morphogenetic protein 2 Signaling 428 0.432 0.846 0.99 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
O00238 bone morphogenetic protein receptor type 1B Kinase 145 0.573 0.615 1.00 0.100 None 0 0
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 154 0.565 0.769 1.00 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 273 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.100 None 0 0
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Q8WVP7 limb development membrane protein 1 Receptor 98 0.619 0.308 1.3E-08 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
Q9HAZ2 PR/SET domain 16 200 0.522 0.808 1.00 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
P21810 biglycan 253 0.484 0.808 0.45 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
Q9BY41 histone deacetylase 8 Epigenetic regulator 236 0.511 0.885 0.98 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
P48740 mannan binding lectin serine peptidase 1 Enzyme 123 0.565 0.885 1.2E-11 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
Q96A33 coiled-coil domain containing 47 55 0.678 0.462 6.1E-08 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 187 0.544 0.731 0.57 0.100 None 0 0
Entrez Id: 57477
Gene Symbol: SHROOM4
SHROOM4
Q9ULL8 shroom family member 4 42 0.700 0.500 1.00 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.100 None 0 0