Disease: Sparse hair
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
TERC telomerase RNA component 0.471 0.846
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
DKC1 O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 1.00 0.547 0.769
ALOX12B O75342 arachidonate 12-lipoxygenase, 12R type Enzyme 7.6E-04 0.603 0.577
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
PARN O95453 poly(A)-specific ribonuclease Nucleic acid binding 3.7E-04 0.575 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
LMNA P02545 lamin A/C 1.00 0.384 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
TGM1 P22735 transglutaminase 1 Enzyme 2.3E-13 0.565 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
NIPAL4 Q0D2K0 NIPA like domain containing 4 1.4E-03 0.682 0.423
EXOSC2 Q13868 exosome component 2 Enzyme 2.9E-06 0.711 0.462
NECTIN1 Q15223 nectin cell adhesion molecule 1 6.1E-02 0.523 0.808