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: 100
Gene Symbol: ADA
ADA
P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.100 None 0 0
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
Q9ULT0 tetratricopeptide repeat domain 7A 59 0.641 0.577 1.5E-31 0.100 None 0 0
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
Q9H4L7 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Enzyme 54 0.656 0.423 1.00 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: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 57 0.674 0.615 9.3E-08 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
P01127 platelet derived growth factor subunit B Signaling 301 0.488 0.846 0.77 0.100 None 0 0
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
Q9UMX9 solute carrier family 45 member 2 Transporter 75 0.626 0.538 1.7E-06 0.100 None 0 0
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
P04629 neurotrophic receptor tyrosine kinase 1 Kinase 443 0.422 0.808 2.0E-06 0.100 None 0 0
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
P15918 recombination activating 1 Enzyme 209 0.509 0.769 2.8E-05 0.100 None 0 0
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
P55895 recombination activating 2 207 0.507 0.769 2.0E-02 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
Q9H324 ADAM metallopeptidase with thrombospondin type 1 motif 10 Enzyme 67 0.641 0.500 0.84 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 0 0
Entrez Id: 7390
Gene Symbol: UROS
UROS
P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.100 None 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.100 None 0 0
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A
Q96AX1 VPS33A core subunit of CORVET and HOPS complexes Transporter 45 0.695 0.538 0.18 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
Q96SD1 DNA cross-link repair 1C 150 0.544 0.808 2.5E-07 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
Q04721 notch receptor 2 384 0.441 0.808 1.00 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
P08253 matrix metallopeptidase 2 Enzyme 1021 0.333 0.923 0.84 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
P15976 GATA binding protein 1 264 0.483 0.808 0.95 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
P07437 tubulin beta class I Cellular structure 96 0.603 0.692 0.98 0.100 None 0 0
Entrez Id: 1893
Gene Symbol: ECM1
ECM1
Q16610 extracellular matrix protein 1 120 0.576 0.731 4.7E-14 0.100 None 0 0