Source: CLINVAR ×
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: 9969
Gene Symbol: MED13
MED13 		Q9UHV7 mediator complex subunit 13 6 0.711 0.538 1.00 0.400 moderate 1.000 0 1 2018 2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 1.000 2 6 2012 2015
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		Q8N653 leucine zipper like transcription regulator 1 38 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 16 0.612 0.538 1.00 0.100 None 1.000 1 8 2017 2017
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 27 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		P61328 fibroblast growth factor 12 Signaling 7 0.619 0.615 0.62 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 10 0.573 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		P52746 zinc finger protein 142 Transcription factor 5 0.861 0.192 4.8E-16 0.100 None 1.000 1 3 2019 2019
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		Q5TGY3 AT-hook DNA binding motif containing 1 17 0.700 0.500 1.00 0.100 None 1.000 1 3 2014 2014
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 26960
Gene Symbol: NBEA
NBEA 		Q8NFP9 neurobeachin 4 0.760 0.538 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 28 0.626 0.538 0.74 0.100 None 1.000 1 5 2017 2017
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		TSPEAR antisense RNA 1 15 0.821 0.269 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		Q8IWQ3 BR serine/threonine kinase 2 Kinase 16 0.700 0.500 0.95 0.100 None 1.000 1 3 2019 2019
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		Q16719 kynureninase Enzyme 20 0.617 0.692 4.2E-18 0.100 None 1.000 1 2 2017 2017
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		Q8WU66 thrombospondin type laminin G domain and EAR repeats 15 0.736 0.385 2.4E-17 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 47 0.644 0.500 0.94 0.100 None 0 11
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 22 0.565 0.654 1.0E-17 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Q92963 Ras like without CAAX 1 Enzyme modulator 44 0.527 0.808 0.13 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 0 1
Entrez Id: 51132
Gene Symbol: RLIM
RLIM 		Q9NVW2 ring finger protein, LIM domain interacting 16 0.686 0.500 0.99 0.100 None 0 1
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B 		Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 8 0.736 0.423 1.00 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 15 0.599 0.654 2.3E-06 0.100 None 0 1