Source: HPO

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: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.580 0.483 0.55
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
disease 1.000 1.000 0 0 1992 2018
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
integrin subunit beta 3 0.507 0.690 2.2E-03
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
disease 1.000 1.000 0 0 1986 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
exostosin glycosyltransferase 1 0.577 0.655 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
disease 1.000 definitive 0.969 0 0 1995 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 1.000 0.940 0 0 1998 2018
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.624 0.655 8.1E-19
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis
disease 1.000 1.000 0 0 2005 2017
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 1.000 0.971 0 0 1988 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.486 0.759 7.5E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
disease 1.000 1.000 0 0 1982 2018
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.627 0.724 5.2E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
phenotype 1.000 0.946 0 0 1983 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, liver/bone/kidney 0.564 0.621 3.5E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
disease 1.000 1.000 0 0 1988 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0003076
Disease: Aniridia
Aniridia
disease 1.000 0.972 0 0 1978 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene receptor tyrosine kinase 0.394 0.759 0.99
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease 1.000 1.000 0 0 1977 2016
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1
disease 1.000 0.971 0 0 1981 2017
Entrez Id: 7068
Gene Symbol: THRB
THRB
thyroid hormone receptor beta 0.584 0.690 1.00
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
disease 1.000 strong 0.989 0 0 1989 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease 1.000 0.910 0 0 1987 2017
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.557 0.517 0.68
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C
disease 1.000 1.000 0 0 1997 2016
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.616 0.345 0.66
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease 1.000 0.971 0 0 1992 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.382 0.724 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease 1.000 0.917 0 0 1983 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1261473
Disease: Sarcoma
Sarcoma
group 1.000 strong 0.950 0 0 1987 2018
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.554 0.621 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease 1.000 0.941 0 0 1965 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 1.000 0.956 0 0 2003 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Malignant hyperpyrexia due to anesthesia
disease 1.000 0.954 0 0 1990 2018
Entrez Id: 2160
Gene Symbol: F11
F11
coagulation factor XI 0.656 0.414 5.1E-26
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency
disease 1.000 1.000 0 0 1981 2017
Entrez Id: 1121
Gene Symbol: CHM
CHM
CHM, Rab escort protein 1 0.663 0.379 1.00
CUI: C0008525
Disease: Choroideremia
Choroideremia
disease 1.000 0.963 0 0 1988 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 1.000 1.000 0 0 1987 2017
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.590 0.552
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease 1.000 1.000 0 0 1992 2016