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: 64802
Gene Symbol: NMNAT1
NMNAT1 		Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 10 0.656 0.269 3.5E-02 0.100 None 0 1
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		P57740 nucleoporin 107 Transporter 3 0.595 0.500 2.6E-09 0.100 None 0 1
Entrez Id: 56947
Gene Symbol: MFF
MFF 		Q9GZY8 mitochondrial fission factor 3 0.705 0.462 6.5E-02 0.100 None 0 1
Entrez Id: 56776
Gene Symbol: FMN2
FMN2 		Q9NZ56 formin 2 9 0.610 0.538 1.00 0.100 None 0 1
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 31 0.581 0.731 4.6E-05 0.100 None 0 1
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 16 0.401 0.846 1.00 0.100 None 0 1
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 9 0.636 0.615 1.5E-08 0.100 None 0 1
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		P50897 palmitoyl-protein thioesterase 1 Enzyme 13 0.593 0.808 4.9E-05 0.100 None 0 1
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 18 0.505 0.769 3.4E-16 0.100 None 0 1
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		Q9UM00 transmembrane and coiled-coil domains 1 30 0.588 0.654 9.4E-10 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 23 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 19 0.705 0.423 1.8E-11 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 9 0.659 0.423 6.1E-17 0.100 None 0 1
Entrez Id: 57325
Gene Symbol: KAT14
KAT14 		Q9H8E8 lysine acetyltransferase 14 2 0.890 0.077 1.3E-09 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 38 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		P51688 N-sulfoglucosamine sulfohydrolase Enzyme 24 0.638 0.692 1.0E-04 0.100 None 0 2
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 34 0.489 0.808 1.6E-29 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 2
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		Q06609 RAD51 recombinase 26 0.447 0.846 2.7E-02 0.100 None 0 1
Entrez Id: 58538
Gene Symbol: MPP4
MPP4 		Q96JB8 membrane palmitoylated protein 4 Enzyme 7 0.792 0.308 3.4E-18 0.100 None 0 1
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 39 0.551 0.769 8.1E-04 0.100 None 0 1
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: 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: 57531
Gene Symbol: HACE1
HACE1 		Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 4 0.601 0.692 6.1E-06 0.100 None 0 1