Source: CLINGEN

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: 84033
Gene Symbol: OBSCN
OBSCN
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.736 0.538 1.9E-164
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.320 limited 1.000 4 0 2001 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 limited 1.000 9 0 1996 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2
disease 0.690 definitive 1.000 8 0 1994 2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 0.900 strong 1.000 3 0 2014 2020
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.300 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.300 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.300 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
Noonan syndrome-like disorder with loose anagen hair
disease 0.300 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
Noonan-Like Syndrome With Loose Anagen Hair
disease 0.300 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
Estren-Dameshek Variant of Fanconi Anemia
disease 0.500 definitive 1.000 6 0 1996 2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
Estren-Dameshek Variant of Fanconi Pancytopenia
disease 0.500 definitive 1.000 6 0 1996 2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease 1.000 definitive 0.986 6 0 1996 2020
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
disease 1.000 definitive 1.000 5 0 1998 2020
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.480 definitive 1.000 8 0 1998 2016
Entrez Id: 283310
Gene Symbol: OTOGL
OTOGL
otogelin like 0.805 0.269 4.7E-52
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 definitive 1.000 5 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
Hereditary non-polyposis colorectal cancer syndrome
disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
Hereditary Nonpolyposis Colorectal Cancer
disease 0.330 moderate 1.000 6 0 2005 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.400 definitive 1.000 5 0 1998 2019
Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A
myosin IIIA 0.780 0.269 1.8E-45
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 strong 1.000 5 0 2002 2018
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
phenotype 0.300 definitive 1.000 8 0 2003 2018
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2
disease 0.920 definitive 1.000 9 0 1998 2018
Entrez Id: 8736
Gene Symbol: MYOM1
MYOM1
myomesin 1 0.839 0.269 1.7E-40
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 limited 1.000 2 0 2011 2011