Source: ALL
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: 91869
Gene Symbol: RFT1
RFT1 		Q96AA3 RFT1 homolog 60 0.700 0.500 3.7E-13 0.100 None 0 1
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3 		Q15649 zinc finger HIT-type containing 3 72 0.666 0.462 5.5E-07 0.100 None 0 0
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.400 None 1.000 49 0 1980 2020
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 1999 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.470 None 1.000 8 0 2001 2014
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.330 None 1.000 4 0 2001 2014
Entrez Id: 1392
Gene Symbol: CRH
CRH 		P06850 corticotropin releasing hormone Signaling 402 0.439 0.808 0.72 0.320 None 1.000 3 0 2001 2017
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2 		Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 111 0.593 0.692 0.80 0.010 None 1.000 1 0 2001 2001
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.500 None 1.000 26 1 2002 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.020 None 1.000 2 0 2002 2006
Entrez Id: 6497
Gene Symbol: SKI
SKI 		P12755 SKI proto-oncogene 255 0.503 0.808 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1 		Q13428 treacle ribosome biogenesis factor 1 138 0.550 0.808 0.95 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.020 None 1.000 2 1 2003 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.500 None 0.967 30 6 2004 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.030 None 0.667 3 0 2006 2014
Entrez Id: 1641
Gene Symbol: DCX
DCX 		O43602 doublecortin 175 0.511 0.769 0.30 0.010 None 1.000 1 0 2006 2006
Entrez Id: 686
Gene Symbol: BTD
BTD 		P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		P21333 filamin A 571 0.419 0.846 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4693
Gene Symbol: NDP
NDP 		Q00604 norrin cystine knot growth factor NDP 142 0.566 0.692 0.65 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4160
Gene Symbol: MC4R
MC4R 		P32245 melanocortin 4 receptor G-protein coupled receptor 149 0.535 0.692 9.2E-04 0.010 None 1.000 1 1 2007 2007
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 218 0.529 0.615 1.1E-02 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		P51659 hydroxysteroid 17-beta dehydrogenase 4 141 0.546 0.654 2.4E-10 0.310 None 1.000 1 0 2007 2007