Source: HPO

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: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.700 None 1.000 0 0 1995 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.630 strong 1.000 0 0 2003 2018
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: 8643
Gene Symbol: PTCH2
PTCH2 		patched 2 0.563 0.692 3.4E-16
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.610 moderate 1.000 0 0 1999 1999
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: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.150 None 0.800 0 0 1999 2018
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease 0.100 None 0 0