nametext
"ACER3"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ADAM10"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ADAM10"xsd:string"Disease susceptibility is associated with variations affecting the gene represented in this entry."xsd:string
"ADRA2B"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ACVRL1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ACVR1B"xsd:string"ACVRIB is abundantly expressed in systemic sclerosis patient fibroblasts and production of collagen is also induced by activin-A/INHBA. This suggests that the activin/ACRV1B signaling mechanism is involved in systemic sclerosis."xsd:string
"ASPA"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ADAM17"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ACY1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ACVR1"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ADAM22"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"ADAM29"xsd:string"Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis."xsd:string
"SLC25A4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"SLC25A4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"SLC25A4"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"FDXR"xsd:string"The disease is caused by mutations affecting the gene represented in this entry."xsd:string
"MLLT3"xsd:string"A chromosomal aberration involving MLLT3 is associated with acute leukemias. Translocation t(9;11)(p22;q23) with KMT2A/MLL1. The result is a rogue activator protein. Fusion protein KMT2A-MLLT3 interacts with MEN1 and PSIP1 (PubMed:22936661, PubMed:25305204)."xsd:string
"MLLT3"xsd:string"A chromosomal aberration involving MLLT3 was observed in a patient with neuromotor development delay, cerebellar ataxia and epilepsy. Translocation t(4;9)(q35;p22)."xsd:string
"AFF2"xsd:string"The disease is caused by mutations affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island."xsd:string
"AFF1"xsd:string"A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with KMT2A/MLL1. The result is a rogue activator protein."xsd:string
"AFDN"xsd:string"A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein."xsd:string
"MLLT10"xsd:string"A chromosomal aberration involving MLLT10 is associated with diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with PICALM."xsd:string
"MLLT10"xsd:string"A chromosomal aberration involving MLLT10 is associated with acute leukemias. Translocation t(10;11)(p12;q23) with KMT2A/MLL1. The result is a rogue activator protein."xsd:string
"MLLT6"xsd:string"A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with KMT2A/MLL1. The result is a rogue activator protein."xsd:string
"MLLT11"xsd:string"A chromosomal aberration involving MLLT11 is found in acute leukemias. Translocation t(1;11)(q21;q23) with KMT2A/MLL1."xsd:string