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: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
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: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 2
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 11113
Gene Symbol: CIT
CIT
O14578 citron rho-interacting serine/threonine kinase Kinase 127 0.555 0.692 1.00 0.100 None 0 0
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
O14617 adaptor related protein complex 3 subunit delta 1 Transporter 58 0.678 0.385 0.99 0.100 None 0 0
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: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
O15054 lysine demethylase 6B Epigenetic regulator 173 0.514 0.808 1.00 0.100 None 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
O15120 1-acylglycerol-3-phosphate O-acyltransferase 2 125 0.585 0.654 1.2E-07 0.100 None 0 0
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
O15247 chloride intracellular channel 2 Ion channel 39 0.700 0.500 5.0E-02 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 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: 26227
Gene Symbol: PHGDH
PHGDH
O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 0.100 None 0 0
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
O43427 FGF1 intracellular binding protein 39 0.674 0.538 4.4E-06 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: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN
O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 8726
Gene Symbol: EED
EED
O75530 embryonic ectoderm development 123 0.588 0.615 1.00 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.100 None 0 0
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
O75962 trio Rho guanine nucleotide exchange factor Kinase 143 0.556 0.731 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 1