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: 257169
Gene Symbol: C9orf43
C9orf43
Q8TAL5 chromosome 9 open reading frame 43 1 1.000 4.4E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 132430
Gene Symbol: PABPC4L
PABPC4L
P0CB38 poly(A) binding protein cytoplasmic 4 like 2 1.000 5.3E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 285556
Gene Symbol: C4orf54
C4orf54
D6RIA3 chromosome 4 open reading frame 54 2 0.931 9.3E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2112
Gene Symbol: ETM2
ETM2
essential tremor 2 3 0.931 0.038 0.010 None 1.000 1 0 2004 2004
Entrez Id: 400818
Gene Symbol: NBPF9
NBPF9
P0DPF3 NBPF member 9 3 0.931 0.038 9.5E-39 0.010 None 1.000 1 0 2019 2019
Entrez Id: 728841
Gene Symbol: NBPF8
NBPF8
Q3BBV2 NBPF member 8 3 0.931 0.038 1.4E-07 0.010 None 1.000 1 0 2019 2019
Entrez Id: 882
Gene Symbol: CCAL1
CCAL1
chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) 3 0.890 0.038 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4964
Gene Symbol: OFC2
OFC2
orofacial cleft 2 4 0.931 0.115 0.010 None 1.000 1 0 1998 1998
Entrez Id: 22798
Gene Symbol: LAMB4
LAMB4
A4D0S4 laminin subunit beta 4 Enzyme modulator 5 0.861 0.115 1.6E-42 0.010 None 1.000 1 0 2017 2017
Entrez Id: 387570
Gene Symbol: DUH1
DUH1
Dyschromatosis universalis hereditaria 5 0.890 0.115 0.010 None 1.000 1 0 2004 2004
Entrez Id: 400935
Gene Symbol: IL17REL
IL17REL
Q6ZVW7 interleukin 17 receptor E like 5 0.861 0.192 1.9E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 55203
Gene Symbol: LGI2
LGI2
Q8N0V4 leucine rich repeat LGI family member 2 5 0.839 0.077 1.5E-06 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57306
Gene Symbol: CUP2Q35
CUP2Q35
Syndactyly, type I 5 0.839 0.077 0.010 None 1.000 1 0 1981 1981
Entrez Id: 84908
Gene Symbol: FAM136A
FAM136A
Q96C01 family with sequence similarity 136 member A 5 0.890 0.154 5.9E-04 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5072
Gene Symbol: PARK3
PARK3
Parkinson disease 3 (autosomal dominant, Lewy body) 6 0.821 0.038 0.010 None 1.000 1 0 2006 2006
Entrez Id: 57001
Gene Symbol: SDHAF3
SDHAF3
Q9NRP4 succinate dehydrogenase complex assembly factor 3 6 0.821 0.192 2.6E-03 0.010 None 1.000 1 1 2017 2017
Entrez Id: 8151
Gene Symbol: WT4
WT4
Wilms tumor-4 7 0.821 0.154 0.020 None 0.500 2 0 1998 2004
Entrez Id: 55738
Gene Symbol: ARFGAP1
ARFGAP1
Q8N6T3 ADP ribosylation factor GTPase activating protein 1 8 0.839 0.154 1.5E-03 0.010 None 1.000 1 0 2012 2012
Entrez Id: 116444
Gene Symbol: GRIN3B
GRIN3B
O60391 glutamate ionotropic receptor NMDA type subunit 3B Ion channel 9 0.792 0.231 2.0E-07 0.010 None 1.000 1 0 2008 2008
Entrez Id: 424
Gene Symbol: ARVD3
ARVD3
arrhythmogenic right ventricular dysplasia 3 9 0.792 0.192 0.010 None 1.000 1 0 2002 2002
Entrez Id: 116093
Gene Symbol: DIRC1
DIRC1
Q969H9 disrupted in renal carcinoma 1 10 0.861 0.154 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
P26998 crystallin beta B3 10 0.769 0.269 3.6E-11 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6641
Gene Symbol: SNTB1
SNTB1
Q13884 syntrophin beta 1 10 0.792 0.269 1.0E-03 0.010 None < 0.001 1 0 1982 1982
Entrez Id: 100529262
Gene Symbol: MIA-RAB4B
MIA-RAB4B
MIA-RAB4B readthrough (NMD candidate) 11 0.821 0.385 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1866
Gene Symbol: DYT7
DYT7
dystonia 7, torsion (autosomal dominant) 11 0.805 0.269 0.010 None 1.000 1 0 1999 1999