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: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 1996 1996
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 78 0.638 0.500 4.5E-17 0.300 None 1.000 1 0 2011 2011
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
O00330 pyruvate dehydrogenase complex component X Enzyme 93 0.595 0.692 9.7E-05 0.300 None 1.000 1 0 2011 2011
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
O00533 cell adhesion molecule L1 like 73 0.603 0.654 8.9E-12 0.300 None 1.000 1 0 2003 2003
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
O15054 lysine demethylase 6B Epigenetic regulator 173 0.514 0.808 1.00 0.300 None 1.000 1 0 2011 2011
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.300 None 1.000 1 0 2011 2011
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1
O15431 solute carrier family 31 member 1 Transporter 71 0.612 0.577 6.5E-02 0.300 None 1.000 1 0 2011 2011
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A
O15541 ring finger protein 113A Enzyme 127 0.597 0.769 0.89 0.010 None 1.000 1 1 2020 2020
Entrez Id: 9901
Gene Symbol: SRGAP3
SRGAP3
O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 30 0.711 0.346 1.00 0.300 None 1.000 1 0 2010 2010
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
O43379 WD repeat domain 62 83 0.597 0.615 2.4E-23 0.300 None 1.000 1 0 2011 2011
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.300 None 1.000 1 0 2011 2011
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.300 None 1.000 1 0 2010 2010
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 113 0.579 0.615 0.42 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
O75845 sterol-C5-desaturase Enzyme 71 0.641 0.577 2.6E-03 0.300 None 1.000 1 0 2002 2002
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
O94905 ER lipid raft associated 2 85 0.647 0.500 6.7E-04 0.300 None 1.000 1 0 2011 2011
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.300 None 1.000 1 0 2001 2001
Entrez Id: 796
Gene Symbol: CALCA
CALCA
P01258 P06881 calcitonin related polypeptide alpha Signaling 467 0.416 0.923 1.6E-02 0.300 None 1.000 1 0 2001 2001
Entrez Id: 7432
Gene Symbol: VIP
VIP
P01282 vasoactive intestinal peptide Signaling 376 0.437 0.846 4.2E-04 0.300 None 1.000 1 0 2001 2001
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
P05129 protein kinase C gamma Kinase 90 0.617 0.500 1.00 0.300 None 1.000 1 0 2011 2011
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.300 None 1.000 1 0 2011 2011
Entrez Id: 7054
Gene Symbol: TH
TH
P07101 tyrosine hydroxylase 321 0.462 0.885 1.7E-06 0.300 None 1.000 1 0 2011 2011
Entrez Id: 142
Gene Symbol: PARP1
PARP1
P09874 poly(ADP-ribose) polymerase 1 565 0.389 0.923 3.3E-04 0.300 None 1.000 1 0 2011 2011
Entrez Id: 282808
Gene Symbol: RAB40AL
RAB40AL
P0C0E4 RAB40A like 18 0.792 0.346 0.31 0.010 None 1.000 1 0 2002 2002