Source: GENOMICS_ENGLAND

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: 440073
Gene Symbol: IQSEC3
IQSEC3 		IQ motif and Sec7 domain ArfGEF 3 3.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 55999
Gene Symbol: NXF4
NXF4 		nuclear RNA export factor 4 pseudogene
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 729041
Gene Symbol: FAAHP1
FAAHP1 		fatty acid amide hydrolase pseudogene 1
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		phenotype 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3 		MAP7 domain containing 3 4.6E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 1.000 1 0 1989 1989
Entrez Id: 79883
Gene Symbol: PODNL1
PODNL1 		podocan like 1 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 85349
Gene Symbol: KRT87P
KRT87P 		keratin 87 pseudogene
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 390168
Gene Symbol: OR5M1
OR5M1 		olfactory receptor family 5 subfamily M member 1 1.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 limited 0 0
Entrez Id: 4725
Gene Symbol: NDUFS5
NDUFS5 		NADH:ubiquinone oxidoreductase subunit S5 2.6E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.300 limited 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 1.000 definitive 0.977 4 0 1988 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease 0.800 strong 0.960 1 0 1992 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group 1.000 strong 0.955 1 0 1987 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 None 0.973 0 0 1982 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.700 None 0.947 0 0 1989 2020
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 0 0 1987 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.310 strong 1.000 0 0 2003 2003
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 0.400 strong 0.727 0 0 1991 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		disease 0.740 None 0.750 0 0 2002 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease 0.700 None 0.965 0 0 1991 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0349535
Disease: Carcinoid tumor of intestine
Carcinoid tumor of intestine 		disease 0.300 strong 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland 		disease 0.300 strong 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease 0.300 strong 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
ADRENOCORTICAL CARCINOMA, HEREDITARY 		disease 0.620 None 1.000 0 0 1994 2001
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.959 0 0 1990 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype 0.400 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease 0.700 None 0.924 0 0 1992 2019