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: 857
Gene Symbol: CAV1
CAV1
Q03135 caveolin 1 Enzyme modulator 633 0.388 0.885 8.3E-03 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 1
Entrez Id: 9049
Gene Symbol: AIP
AIP
O00170 aryl hydrocarbon receptor interacting protein Chaperone 216 0.517 0.769 0.36 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 37 0.682 0.462 2.0E-10 0.100 None 0 0
Entrez Id: 9101
Gene Symbol: USP8
USP8
P40818 ubiquitin specific peptidase 8 Enzyme 136 0.587 0.654 1.00 0.100 None 0 0
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
Q9UQE7 structural maintenance of chromosomes 3 193 0.535 0.846 1.00 0.100 None 0 0
Entrez Id: 9210
Gene Symbol: BMP15
BMP15
O95972 bone morphogenetic protein 15 Signaling 48 0.659 0.385 1.8E-04 0.100 None 0 0
Entrez Id: 9373
Gene Symbol: PLAA
PLAA
Q9Y263 phospholipase A2 activating protein Enzyme modulator 113 0.597 0.692 0.47 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 138 0.579 0.808 0.97 0.100 None 0 0
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2
Q03252 lamin B2 74 0.636 0.615 1.00 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 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: 7403
Gene Symbol: KDM6A
KDM6A
O15550 lysine demethylase 6A Epigenetic regulator 238 0.498 0.769 1.00 0.100 None 0 0
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.100 None 0 0
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 555 0.393 0.923 8.0E-03 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: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 2
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.100 None 0 0
Entrez Id: 9563
Gene Symbol: H6PD
H6PD
O95479 hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Enzyme 64 0.619 0.654 8.6E-09 0.100 None 0 0
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: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0