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: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 154 0.565 0.769 1.00 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
Q9Y6X9 MORC family CW-type zinc finger 2 83 0.626 0.462 1.00 0.100 None 0 1
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
P23786 carnitine palmitoyltransferase 2 Enzyme 187 0.542 0.769 4.6E-10 0.100 None 0 1
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 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 1