Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 33 40 1995 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease 1.000 None 1.000 0 10 1991 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.800 moderate 0.955 3 3 1989 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease 0.700 None 0.984 1 1 1998 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		disease 0.680 None 1.000 0 2 1992 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.500 None 0.967 35 20 1992 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.500 None 1.000 1 2 2009 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease 0.480 None 1.000 2 1 1994 2015
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0040100
Disease: Thymoma
Thymoma 		disease 0.170 None 0.950 14 8 2003 2013
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group 0.140 None 1.000 2 2 2001 2018
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		disease 0.120 None 1.000 0 1 1996 2004
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease 0.110 None 1.000 1 2 2016 2017
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C4016294
Disease: PIEBALDISM WITH SENSORINEURAL DEAFNESS
PIEBALDISM WITH SENSORINEURAL DEAFNESS 		disease 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C4016297
Disease: PIEBALDISM, PROGRESSIVE
PIEBALDISM, PROGRESSIVE 		disease 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C4749053
Disease: MASTOCYTOSIS, SYSTEMIC, SOMATIC
MASTOCYTOSIS, SYSTEMIC, SOMATIC 		disease 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C2698309
Disease: B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged 		disease 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		disease 0.100 None 0 3
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0016689
Disease: Freckles
Freckles 		phenotype 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype 0.100 None 0 1
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C4749139
Disease: MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC 		disease 0.100 None 0 1