Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8241
Gene Symbol: RBM10
RBM10 		0.100 CausalMutation disease CLINVAR Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 5410571 1970
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 CausalMutation disease CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.110 GeneticVariation disease CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.100 GeneticVariation disease CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045 1973
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.100 CausalMutation disease CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045 1973
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.100 GeneticVariation disease CLINVAR The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 813535 1975
Entrez Id: 1213
Gene Symbol: CLTC
CLTC 		0.100 CausalMutation disease CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406 1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2 		0.100 CausalMutation disease CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406 1976
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation disease CLINVAR Parastremmatic dwarfism. 956253 1976
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 GeneticVariation disease CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892 1976
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation disease CLINVAR Genetic heterogeneity in osteogenesis imperfecta. 458828 1979
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 CausalMutation disease CLINVAR Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. 7424976 1980
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		0.100 CausalMutation disease CLINVAR Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. 7004677 1980
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.100 CausalMutation disease CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523 1980
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.100 CausalMutation disease CLINVAR Sickle cell trait and glucose-6-phosphate dehydrogenase deficiency. Effects on health and military performance in black Navy enlistees. 7283560 1981
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1 		0.100 CausalMutation disease CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317 1981
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244 1983
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation disease CLINVAR Heterogeneity of osteogenesis imperfecta type I. 6876111 1983
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.100 CausalMutation disease CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244 1983
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.100 GeneticVariation disease CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244 1983
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.100 CausalMutation disease CLINVAR Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. 6306230 1983
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.110 CausalMutation disease CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251 1984
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.110 GeneticVariation disease CLINVAR The Coffin-Siris syndrome: report of a family and further delineation. 6499251 1984
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.100 CausalMutation disease CLINVAR Familial porencephalic white matter disease in two generations. 6428250 1984