Source: LHGDN

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: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 1.000 None 0.977 8 0 1982 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 8 0 1962 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 1.000 definitive 0.982 8 0 2001 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 1.000 None 0.953 8 0 1987 2020
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease 1.000 None 0.976 8 0 1997 2019
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 1.000 7 0 1999 2018
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 7 0 1976 2020
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		disease 1.000 strong 1.000 7 0 1981 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 7 0 1994 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		disease 1.000 strong 0.989 7 0 1992 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease 1.000 definitive 0.981 7 0 1985 2019
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease 1.000 definitive 0.983 7 0 1996 2020
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 1.000 None 1.000 7 0 1993 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease 1.000 definitive 0.987 6 0 1987 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 1.000 None 1.000 6 0 1975 2019
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 1.000 None 0.960 6 0 1990 2019
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 0.493 0.769 8.5E-02
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		disease 1.000 None 0.987 6 0 1976 2019
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		elongator complex protein 1 0.579 0.769 2.1E-21
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		disease 1.000 None 1.000 6 0 1993 2019
Entrez Id: 1121
Gene Symbol: CHM
CHM 		CHM Rab escort protein 0.592 0.654 1.00
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease 1.000 None 0.965 5 0 1987 2020
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		disease 1.000 strong 1.000 5 0 1996 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 1.000 definitive 1.000 5 0 1997 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease 1.000 definitive 1.000 5 0 1995 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL 		MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.978 5 0 1995 2020
Entrez Id: 4771
Gene Symbol: NF2
NF2 		neurofibromin 2 0.468 0.885 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease 1.000 definitive 0.987 5 0 1991 2020
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease 1.000 None 0.984 5 0 1992 2019