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: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 0 2
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8863
Gene Symbol: PER3
PER3 		P56645 period circadian regulator 3 Transcription factor 122 0.559 0.731 1.4E-17 0.040 None 1.000 4 2 2008 2017
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		P07911 uromodulin 164 0.520 0.846 3.1E-17 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1446
Gene Symbol: CSN1S1
CSN1S1 		P47710 casein alpha s1 Storage 16 0.780 0.346 1.4E-16 0.010 None 1.000 1 0 2019 2019
Entrez Id: 219736
Gene Symbol: STOX1
STOX1 		Q6ZVD7 storkhead box 1 39 0.729 0.462 1.4E-16 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 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1757
Gene Symbol: SARDH
SARDH 		Q9UL12 sarcosine dehydrogenase Enzyme 166 0.523 0.846 5.3E-16 0.100 None 0 0
Entrez Id: 7253
Gene Symbol: TSHR
TSHR 		P16473 thyroid stimulating hormone receptor G-protein coupled receptor 250 0.486 0.808 3.0E-15 0.100 None 0 0
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B 		Q9UGL1 lysine demethylase 5B Epigenetic regulator 162 0.532 0.731 7.9E-15 0.100 None 0 0
Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5 		Q9Y345 solute carrier family 6 member 5 Transporter 64 0.670 0.500 9.0E-15 0.100 None 0 0
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.100 None 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 7984
Gene Symbol: ARHGEF5
ARHGEF5 		Q12774 Rho guanine nucleotide exchange factor 5 140 0.526 0.808 7.6E-14 0.010 None 1.000 1 0 2016 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.010 None 1.000 1 0 2018 2018
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		P06276 butyrylcholinesterase 392 0.447 0.923 1.1E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 60 0.700 0.500 2.6E-13 0.100 None 0 0
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		Q00597 FA complementation group C 218 0.507 0.808 2.8E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 94233
Gene Symbol: OPN4
OPN4 		Q9UHM6 opsin 4 G-protein coupled receptor 87 0.579 0.769 9.0E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		Q8NHS3 major facilitator superfamily domain containing 8 50 0.682 0.231 2.5E-12 0.100 None 0 0
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.010 None 1.000 1 1 2018 2018
Entrez Id: 268
Gene Symbol: AMH
AMH 		P03971 anti-Mullerian hormone 242 0.476 0.846 3.4E-12 0.010 None 1.000 1 0 2018 2018