Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.400 Biomarker phenotype CTD_human Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374 2016
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.400 Biomarker phenotype CTD_human Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 23313956 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		0.400 Biomarker phenotype CTD_human IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 17468754 2007
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		0.400 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype HPO
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.400 Biomarker phenotype HPO
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.400 Biomarker phenotype HPO
Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1 		0.300 Biomarker phenotype CTD_human Synthetic and Receptor Signaling Explorations of the Mitragyna Alkaloids: Mitragynine as an Atypical Molecular Framework for Opioid Receptor Modulators. 27192616 2016
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		0.300 Therapeutic phenotype CTD_human Airway tissue plasminogen activator prevents acute mortality due to lethal sulfur mustard inhalation. 25331496 2015
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		0.300 Biomarker phenotype CTD_human Insulinlike growth factor receptor type 1 and type 2 are downregulated in the nitrofen-induced hypoplastic lung. 20620343 2010
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		0.300 Biomarker phenotype CTD_human Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. 19822448 2010
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.300 Biomarker phenotype CTD_human An English kindred with a novel recessive tauopathy and respiratory failure. 14595660 2003
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1 		0.300 Biomarker phenotype CTD_human Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. 11984597 2002
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		0.300 Biomarker phenotype CTD_human Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163 2002
Entrez Id: 7200
Gene Symbol: TRH
TRH 		0.300 Therapeutic phenotype CTD_human [Central nervous system stimulants as nonspecific antagonists of morphine-induced respiratory depression]. 1305443 1993
Entrez Id: 7200
Gene Symbol: TRH
TRH 		0.300 Therapeutic phenotype CTD_human Stimulant effect of thyrotropin-releasing hormone and its analog, RGH 2202, on the diaphragm respiratory activity, and their antagonism with morphine: possible involvement of the N-methyl-D-aspartate receptors. 1833029 1991
Entrez Id: 5173
Gene Symbol: PDYN
PDYN 		0.300 Therapeutic phenotype CTD_human Effect of dynorphin-(1-13) and related peptides on respiratory rate and morphine-induced respiratory rate depression. 6662192 1983
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.100 Biomarker phenotype HPO
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.100 Biomarker phenotype HPO
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		0.100 Biomarker phenotype HPO
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1 		0.100 Biomarker phenotype HPO
Entrez Id: 4352
Gene Symbol: MPL
MPL 		0.100 Biomarker phenotype HPO
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		0.100 Biomarker phenotype HPO