SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
0.100 Biomarker disease HPO
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.020 Biomarker disease BEFREE Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed. 24486774 2014
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.020 GeneticVariation disease BEFREE We describe a 0.73 Mb duplication of chromosome 22q11.21 between LCR-B and LCR-D and a missense mutation in a conserved C2H2 zinc finger domain of SALL4 in a cognitively normal patient with multiple skeletal anomalies including radioulnar synostosis, thumb aplasia, butterfly vertebrae, rib abnormalities, and hypoplasia of the humeral and femoral epiphyses. 25823593 2015
CUI: C1405984
Disease: Absent radius
Absent radius
0.100 Biomarker disease HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE Differential expression of the novel oncogene, SALL4, in lymphoma, plasma cell myeloma, and acute lymphoblastic leukemia. 16998462 2006
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
0.010 Biomarker disease BEFREE Our studies provide a foundation in the development of leukemia stem cell-specific therapy by targeting SALL4. 18487508 2008
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 Biomarker phenotype BEFREE Targeting cancer addiction for SALL4 by shifting its transcriptome with a pharmacologic peptide. 29976840 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 Biomarker group BEFREE LIN28 and SALL4 staining was seen in 2/52 (4%) and 14/52 (27%) gastric conventional adenocarcinomas, respectively. 30196987 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 Biomarker group BEFREE The fetal gut-like adenocarcinoma component revealed diffuse immunoreactivity for SALL4 and partial positivity for AFP, whereas the conventional-type adenocarcinoma component was negative. 28970139 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 Biomarker group BEFREE Immunohistochemistry showed the adenocarcinoma and primitive tubules to be strongly SALL4 and epithelial marker positive but with only focal expression of α-fetoprotein and glypican-3. 28315695 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
0.010 AlteredExpression disease BEFREE Loss of E-cadherin and fascin expression was significantly more frequent in UCE/DCEs than high-grade endometrioid and clear cell adenocarcinomas (P = 0.012, 0.014 and P = 0.01, 0.003, respectively).We suggest that loss of E-cadherin expression together with fascin and SALL4 immunopositivity in addition to morphologic features have an impact in differential diagnosis of UCE/DCEs from other high-grade endometrial carcinomas. 28272224 2017
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia
0.010 AlteredExpression disease BEFREE Through immunohistochemistry and real-time reverse-transcription-polymerase chain reaction (RT-PCR), we demonstrated that SALL4 was constitutively expressed in human primary acute myeloid leukemia (AML, n = 81), and directly tested the leukemogenic potential of constitutive expression of SALL4 in a murine model. 16763212 2006
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor
0.010 Biomarker disease BEFREE For CTC detection, a combination of germ cell tumor (anti-SALL4, anti-OCT3/4) and epithelial cell-specific (anti-keratin, anti-EpCAM) antibodies was used. 24634372 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE The present study aimed to investigate the function of SALL4 in U251 human glioblastoma cells, including apoptosis and invasion inhibition. 28943937 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 Biomarker disease BEFREE In conclusion, identification of a role of the exosomal SALL4/miR-146a-5p regulatory axis in M2-polarization as well as HCC progression provides potential targets for therapeutic and diagnostic applications in liver cancer. 31143524 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.020 AlteredExpression disease BEFREE We developed a stringent high-throughput screening platform comprising unmodified SNU-387 and SNU-398 liver cancer cell lines and SNU-387 cell lines engineered to express low and high levels of SALL4. 31446059 2019
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 GeneticVariation disease BEFREE Aberrant hypomethylation of SALL4 gene in patients with myelodysplastic syndrome. 23122807 2013
CUI: C1332221
Disease: Adult Yolk Sac Tumor
Adult Yolk Sac Tumor
0.020 AlteredExpression disease BEFREE The intestinal-type mucinous glands were immunoreactive for SALL4 (4 cases), AFP (4 cases), glypican 3 (1 case), CDX2 (6 cases), and villin (7 cases), markers that are commonly expressed in YSTs, although the latter 2 markers would be expected to be positive in intestinal-type glands. 28582340 2018
CUI: C1332221
Disease: Adult Yolk Sac Tumor
Adult Yolk Sac Tumor
0.020 Biomarker disease BEFREE Yolk sac tumor areas in the Group 1 cases were consistently immunoreactive for SALL4 and Glypican-3; variably positive for AFP (89%), Villin (89%), PLAP (78%), 34βE12 (67%), CAM 5.2 (62.5%), EMA (56%), CD117 (50%), p16 (50%), CDX2 (44%), p53 (44% aberrant), MOC31 (37.5%), CK7 (33%), GATA3 (33%), CK5 (25%), and PAX8 (11%); and were negative for CD30, Napsin A, OCT4, estrogen, androgen, and progesterone receptors. 31375771 2019
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation disease BEFREE An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. 25823593 2015
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
0.100 Biomarker phenotype HPO
Anaplastic Large Cell Lymphoma, ALK-Positive
0.010 AlteredExpression disease BEFREE While the expression of SALL4 is normally restricted to ESCs and somatic stem cells, we found that it is aberrantly expressed in ALK-positive anaplastic large cell lymphoma (ALK+ ALCL), a type of lymphoid malignancy carrying a mature T-cell immunophenotype. shRNA knockdown of SALL4 in ALK+ ALCL cell lines resulted in apoptosis and cell-cycle arrest, and significantly decreased colony formation on soft agar. 22743134 2012
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 Biomarker disease BEFREE Therefore, SALL4 might be a promising marker for PDAC treatment and targeting SALL4 would benefit anti-proliferative and anti-metastasis therapies. 29958885 2018