Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0002871
Disease: Anemia
Anemia 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 342035
Gene Symbol: GLDN
GLDN
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0031256
Disease: Petechiae
Petechiae 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.100 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
Entrez Id: 26228
Gene Symbol: STAP1
STAP1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.100 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
Entrez Id: 53353
Gene Symbol: LRP1B
LRP1B
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.100 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		0.100 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
Entrez Id: 753
Gene Symbol: LDLRAD4
LDLRAD4
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid 		0.100 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation GWASCAT Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people. 31006500

2020
Entrez Id: 22895
Gene Symbol: RPH3A
RPH3A
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation GWASCAT Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people. 31006500

2020
Entrez Id: 4940
Gene Symbol: OAS3
OAS3
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation GWASCAT Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people. 31006500

2020
Entrez Id: 7358
Gene Symbol: UGDH
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.100 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020