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: 51142
Gene Symbol: CHCHD2
CHCHD2
Q9Y6H1 coiled-coil-helix-coiled-coil-helix domain containing 2 57 0.638 0.538 1.7E-07 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
Q9Y3A5 SBDS ribosome maturation factor Enzyme 105 0.601 0.692 6.2E-05 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 29 0.736 0.385 2.2E-05 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.100 None 0 0
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
Q9BZH6 WD repeat domain 11 179 0.524 0.808 1.4E-08 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 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
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 2
Entrez Id: 54941
Gene Symbol: RNF125
RNF125
Q96EQ8 ring finger protein 125 57 0.647 0.654 4.6E-05 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 0
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD
Q8NFM7 interleukin 17 receptor D 82 0.617 0.654 1.1E-06 0.100 None 0 0
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
Q9NUM4 transmembrane protein 106B 126 0.590 0.462 0.33 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Q9NZC2 triggering receptor expressed on myeloid cells 2 239 0.519 0.769 3.3E-09 0.100 None 0 0