Source: CLINVAR

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: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.200 None 0.929 1 1 1994 2019
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS 		ST20-MTHFS readthrough 0.805 0.115 7.6E-03
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 2
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 2
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.100 None 0 1