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: 4659
Gene Symbol: PPP1R12A
PPP1R12A 		O14974 protein phosphatase 1 regulatory subunit 12A 59 0.626 0.615 1.00 0.010 None < 0.001 1 0 1991 1991
Entrez Id: 4156
Gene Symbol: MBS1
MBS1 		Moebius syndrome 1 12 0.805 0.308 0.010 None < 0.001 1 0 1991 1991
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		P40692 mutL homolog 1 Nucleic acid binding 526 0.399 0.808 3.4E-05 0.020 None 0.500 2 0 1996 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 490 0.406 0.808 0.90 0.020 None 0.500 2 0 1996 2019
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4 		Q96RI1 nuclear receptor subfamily 1 group H member 4 Nuclear receptor 187 0.513 0.808 9.4E-04 0.020 None 0.500 2 0 1996 2000
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		P11413 glucose-6-phosphate dehydrogenase Enzyme 410 0.424 0.846 0.97 0.040 None 0.750 4 0 1981 1991
Entrez Id: 100126270
Gene Symbol: FMR1-AS1
FMR1-AS1 		FMR1 antisense RNA 1 10 0.839 0.231 0.040 None 0.750 4 1 1993 2019
Entrez Id: 351
Gene Symbol: APP
APP 		P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.370 None 0.875 8 0 2009 2018
Entrez Id: 2915
Gene Symbol: GRM5
GRM5 		P41594 glutamate metabotropic receptor 5 G-protein coupled receptor 189 0.525 0.846 1.00 0.100 None 0.950 20 0 2009 2019
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.100 None 0.978 46 0 1991 2015
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.100 None 0.983 58 0 1991 2015
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 1.000 definitive 0.985 685 7 1991 2020
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2 		Q7Z417 nuclear FMR1 interacting protein 2 58 0.641 0.577 1.00 0.100 None 0.989 92 0 2001 2019
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.090 None 1.000 9 0 1996 2007
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.080 None 1.000 8 0 2010 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.080 None 1.000 8 0 2005 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.060 None 1.000 6 0 2008 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		P23560 brain derived neurotrophic factor Signaling 992 0.345 0.923 0.66 0.050 None 1.000 5 2 2005 2016
Entrez Id: 5816
Gene Symbol: PVALB
PVALB 		P20472 parvalbumin Calcium-binding protein 148 0.547 0.692 8.7E-02 0.050 None 1.000 5 0 2018 2020
Entrez Id: 8087
Gene Symbol: FXR1
FXR1 		P51114 FMR1 autosomal homolog 1 Nucleic acid binding 53 0.656 0.615 1.00 0.050 None 1.000 5 0 1995 2019
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.050 None 1.000 5 0 1996 2017
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.340 None 1.000 4 0 1999 2013
Entrez Id: 9513
Gene Symbol: FXR2
FXR2 		P51116 FMR1 autosomal homolog 2 Nucleic acid binding 8 0.805 0.231 1.00 0.040 None 1.000 4 0 1995 2019
Entrez Id: 84549
Gene Symbol: MAK16
MAK16 		Q9BXY0 MAK16 homolog 96 0.566 0.615 0.96 0.030 None 1.000 3 0 2003 2014
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 95 0.633 0.731 1.00 0.030 None 1.000 3 0 2012 2019