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: 6443
Gene Symbol: SGCB
SGCB
Q16585 sarcoglycan beta 64 0.656 0.346 9.6E-07 0.100 None 0 0
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
Q16586 sarcoglycan alpha Calcium-binding protein 111 0.592 0.654 2.7E-03 0.100 None 0 1
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
Q9HAZ2 PR/SET domain 16 200 0.522 0.808 1.00 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
P49810 presenilin 2 Enzyme 146 0.550 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2
P15259 phosphoglycerate mutase 2 22 0.792 0.308 1.4E-07 0.100 None 0 0
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
Q9BT40 inositol polyphosphate-5-phosphatase K Enzyme 103 0.587 0.654 4.2E-05 0.100 None 0 0
Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
Q9UL33 trafficking protein particle complex 2 like 12 0.805 0.269 3.7E-11 0.100 None 0 0
Entrez Id: 5165
Gene Symbol: PDK3
PDK3
Q15120 pyruvate dehydrogenase kinase 3 Kinase 51 0.678 0.500 0.45 0.100 None 0 0
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
P30049 ATP synthase F1 subunit delta Transporter 69 0.674 0.500 7.4E-02 0.100 None 0 0
Entrez Id: 51066
Gene Symbol: SSUH2
SSUH2
Q9Y2M2 ssu-2 homolog 7 0.821 0.231 4.0E-10 0.100 None 0 4
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 184 0.553 0.731 1.00 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0
Entrez Id: 5255
Gene Symbol: PHKA1
PHKA1
P46020 phosphorylase kinase regulatory subunit alpha 1 Kinase 15 0.839 0.115 2.1E-07 0.100 None 0 0
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
P98161 polycystin 1, transient receptor potential channel interacting 217 0.493 0.769 1.00 0.100 None 0 1
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
Q9HC07 transmembrane protein 165 Transporter 37 0.711 0.385 0.28 0.100 None 0 0
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
Q7Z4I7 LIM zinc finger domain containing 2 Cellular structure 30 0.751 0.308 5.1E-05 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0