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Items: 1 to 20 of 29

1.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, SOMATIC

MedGen UID:
864842
Concept ID:
C4016405
Finding
2.

PILOCYTIC ASTROCYTOMA, SOMATIC

MedGen UID:
864841
Concept ID:
C4016404
Neoplastic Process
3.

BLADDER CANCER, TRANSITIONAL CELL, SOMATIC

MedGen UID:
864840
Concept ID:
C4016403
Neoplastic Process
4.

BREAST ADENOCARCINOMA, SOMATIC

MedGen UID:
864839
Concept ID:
C4016402
Neoplastic Process
5.

LUNG CANCER, SQUAMOUS CELL, SOMATIC

MedGen UID:
864838
Concept ID:
C4016401
Neoplastic Process
6.

LUNG CANCER, SOMATIC

MedGen UID:
864837
Concept ID:
C4016400
Neoplastic Process
7.

JUVENILE MYELOMONOCYTIC LEUKEMIA, SOMATIC

MedGen UID:
864725
Concept ID:
C4016288
Neoplastic Process
8.

BREAST CANCER, SOMATIC

MedGen UID:
864719
Concept ID:
C4016282
Neoplastic Process
9.

acute myelogenous leukemia - somatic

MedGen UID:
854232
Concept ID:
C3838644
Neoplastic Process
10.

pancreatic carcinoma, somatic

MedGen UID:
854218
Concept ID:
C3836560
Neoplastic Process
11.

Cardiofaciocutaneous syndrome 2

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. [from OMIM]

MedGen UID:
815335
Concept ID:
C3809005
Disease or Syndrome
12.

Cowden syndrome 6

MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
13.

SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC

MedGen UID:
763079
Concept ID:
C3550165
Finding; Gene or Genome
14.

NEVUS SEBACEOUS, SOMATIC

MedGen UID:
763077
Concept ID:
C3550163
Finding; Gene or Genome
15.

PROTEUS SYNDROME, SOMATIC

MedGen UID:
478863
Concept ID:
C3277233
Finding; Gene or Genome
16.

NEVUS, EPIDERMAL, SOMATIC

MedGen UID:
436219
Concept ID:
C2674644
Finding; Gene or Genome
17.

Glioma susceptibility 1

Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q12; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3. [from OMIM]

MedGen UID:
413414
Concept ID:
C2750850
Disease or Syndrome; Finding
18.

BLADDER CANCER, SOMATIC

MedGen UID:
376957
Concept ID:
C1851162
Gene or Genome; Neoplastic Process
19.

GLIOMA OF BRAIN, FAMILIAL

MedGen UID:
374840
Concept ID:
C1842010
Neoplastic Process
20.

OVARIAN CANCER, SOMATIC

MedGen UID:
370036
Concept ID:
C1969537
Finding; Gene or Genome
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