KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 CausalMutation disease CLINVAR
CUI: C1840392
Disease: HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.730 Biomarker disease CTD_human
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.600 CausalMutation disease CLINVAR
CUI: C4225241
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69
DEAFNESS, AUTOSOMAL DOMINANT 69 		0.600 Biomarker disease CTD_human
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.110 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.100 Biomarker phenotype HPO
CUI: C0263498
Disease: Premature canities
Premature canities 		0.100 Biomarker phenotype HPO
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.100 Biomarker group HPO
CUI: C0344312
Disease: White forelock
White forelock 		0.100 Biomarker phenotype HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		0.100 Biomarker phenotype HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		0.100 Biomarker disease HPO
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		0.100 Biomarker phenotype HPO
CUI: C4024859
Disease: Progressive hyperpigmentation
Progressive hyperpigmentation 		0.100 Biomarker phenotype HPO
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.030 Biomarker disease BEFREE These results demonstrate that this group of DBA patients responds to SF and produces SF mRNA normally, indicating that SF itself is not involved in DBA pathophysiology. 1282827 1992
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		0.010 Biomarker disease BEFREE To investigate whether DBA is due to hyporesponsiveness to or hypoproduction of Steel factor (SF), we compared the in vitro responsiveness of the BFU-E contained in the Ficoll-Hypaque non-adherent cell fraction of six DBA marrows with that of four normal marrows and one transient erythroblastopenia of childhood (TEC) marrow. 1282827 1992
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		0.020 AlteredExpression disease BEFREE The KIT and MGF genes have been shown to play key roles in embryonal and postnatal development of germ cells; therefore, we evaluated their expression by Northern blot analysis in a panel of three GCT cell lines and 24 fresh GCT biopsies. 1332066 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE In addition, we tested tumor cell line supernatants for the presence of secreted SCF protein by enzyme immunoassay, and analyzed the tumor cell lines for membrane-bound SCF by indirect immunofluorescence. 1378316 1992
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 AlteredExpression disease BEFREE The effects of TNF-alpha also extended to the protein level in that TNF-alpha treatment of primary AMLs was associated with enhanced surface expression of the SCF receptor by some of these cells. 1381241 1992