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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 195 0.520 0.808 1.9E-05 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 2
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: 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: 51360
Gene Symbol: MBTPS2
MBTPS2
O43462 membrane bound transcription factor peptidase, site 2 Enzyme 205 0.513 0.769 1.00 0.100 None 0 0
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
P25963 NFKB inhibitor alpha 226 0.487 0.885 0.99 0.100 None 0 0
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
P02533 keratin 14 173 0.530 0.731 2.0E-04 0.100 None 0 0
Entrez Id: 3709
Gene Symbol: ITPR2
ITPR2
Q14571 inositol 1,4,5-trisphosphate receptor type 2 Ion channel 55 0.631 0.654 5.7E-29 0.100 None 0 0
Entrez Id: 29888
Gene Symbol: STRN4
STRN4
Q9NRL3 striatin 4 34 0.792 0.346 0.99 0.100 None 0 1
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
Q9Y6X9 MORC family CW-type zinc finger 2 83 0.626 0.462 1.00 0.100 None 0 1
Entrez Id: 2022
Gene Symbol: ENG
ENG
P17813 endoglin 371 0.446 0.846 1.00 0.100 None 0 1
Entrez Id: 1896
Gene Symbol: EDA
EDA
Q92838 ectodysplasin A 150 0.553 0.808 0.97 0.100 None 0 0
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
Q8WWZ3 EDAR associated death domain 66 0.638 0.462 3.2E-04 0.100 None 0 0
Entrez Id: 10913
Gene Symbol: EDAR
EDAR
Q9UNE0 ectodysplasin A receptor 69 0.623 0.423 1.3E-06 0.100 None 0 0
Entrez Id: 9071
Gene Symbol: CLDN10
CLDN10
P78369 claudin 10 Cell-cell junction 62 0.626 0.577 8.4E-04 0.100 None 0 0