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: 80169
Gene Symbol: CTC1
CTC1
Q2NKJ3 CST telomere replication complex component 1 121 0.601 0.538 1.6E-11 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 321 0.459 0.808 8.9E-10 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B
Q9HC84 mucin 5B, oligomeric mucus/gel-forming 141 0.532 0.808 1.00 0.100 None 0 0
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
P19971 thymidine phosphorylase Enzyme 246 0.495 0.769 1.2E-04 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
P46019 phosphorylase kinase regulatory subunit alpha 2 Kinase 47 0.678 0.462 0.38 0.100 None 0 0
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1
Q15904 ATPase H+ transporting accessory protein 1 38 0.691 0.577 0.99 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: 5450
Gene Symbol: POU2AF1
POU2AF1
Q16633 POU class 2 homeobox associating factor 1 70 0.608 0.615 0.57 0.100 None 0 0
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
Q8IWL1 surfactant protein A2 111 0.563 0.731 9.3E-03 0.100 None 0 0
Entrez Id: 7389
Gene Symbol: UROD
UROD
P06132 uroporphyrinogen decarboxylase 166 0.521 0.769 1.3E-08 0.100 None 0 0
Entrez Id: 50615
Gene Symbol: IL21R
IL21R
Q9HBE5 interleukin 21 receptor Receptor 110 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 79650
Gene Symbol: USB1
USB1
Q9BQ65 U6 snRNA biogenesis phosphodiesterase 1 88 0.636 0.577 6.9E-04 0.100 None 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
O15120 1-acylglycerol-3-phosphate O-acyltransferase 2 125 0.585 0.654 1.2E-07 0.100 None 0 0
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
Q495T6 membrane metalloendopeptidase like 1 Enzyme 74 0.606 0.692 1.2E-22 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 4351
Gene Symbol: MPI
MPI
P34949 mannose phosphate isomerase Enzyme 101 0.585 0.654 1.2E-07 0.100 None 0 0
Entrez Id: 445
Gene Symbol: ASS1
ASS1
P00966 argininosuccinate synthase 1 Enzyme 163 0.523 0.731 1.5E-09 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
P46531 notch receptor 1 693 0.369 0.885 1.00 0.100 None 0 0
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: 1736
Gene Symbol: DKC1
DKC1
O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
Q9NR61 delta like canonical Notch ligand 4 219 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 148738
Gene Symbol: HJV
HJV
Q6ZVN8 hemojuvelin BMP co-receptor 71 0.621 0.654 4.2E-03 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.100 None 0 0
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1
P61966 adaptor related protein complex 1 subunit sigma 1 Transporter 27 0.743 0.308 1.0E-01 0.100 None 0 0