Source: CGI

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.900 None 0.985 0 0 1997 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.800 None 0.979 0 0 1998 2020
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.800 definitive 0.950 0 0 1996 2019
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.690 None 1.000 0 0 2000 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.620 strong 1.000 0 0 2008 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.510 strong 0.500 0 0 2003 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.420 None 1.000 0 0 2009 2013
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.400 None 0 0
Entrez Id: 8312
Gene Symbol: AXIN1
AXIN1
axin 1 0.559 0.577 0.41
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.340 None 1.000 0 0 2001 2004
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
lysine demethylase 6A 0.498 0.769 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.320 None 1.000 0 0 2012 2017