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: 54982
Gene Symbol: CLN6
CLN6
Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.100 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 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: 4915
Gene Symbol: NTRK2
NTRK2
Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 284 0.479 0.808 1.00 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 57 0.691 0.423 3.6E-06 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.100 None 0 0
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
Q8NC96 NECAP endocytosis associated 1 55 0.691 0.346 0.13 0.100 None 0 0
Entrez Id: 85015
Gene Symbol: USP45
USP45
Q70EL2 ubiquitin specific peptidase 45 Enzyme 24 0.792 0.154 1.4E-17 0.100 None 0 0
Entrez Id: 125988
Gene Symbol: MICOS13
MICOS13
Q5XKP0 mitochondrial contact site and cristae organizing system subunit 13 35 0.736 0.346 8.3E-04 0.100 None 0 0
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
Q00610 clathrin heavy chain Transporter 141 0.558 0.769 1.00 0.100 None 0 0
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
O75503 CLN5 intracellular trafficking protein 43 0.705 0.269 1.7E-08 0.100 None 0 0
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.100 None 0 0
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.100 None 0 0
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 94 0.619 0.615 0.98 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.100 None 0 0
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
Q86SQ7 serologically defined colon cancer antigen 8 90 0.619 0.577 1.2E-11 0.100 None 0 0