Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769 163
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 163
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 159
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 153
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 152
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
GPC4 O75487 glypican 4 0.93 0.547 0.769 148
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 146
PTCH1 Q13635 patched 1 1.00 0.398 0.885 143
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 143
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 140
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846 140
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 137
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692 136
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 135