LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 CausalMutation disease CLINVAR
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 Biomarker disease CTD_human
CUI: C0002170
Disease: Alopecia
Alopecia 		0.420 Biomarker disease HPO
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.400 CausalMutation disease CLINVAR
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		0.100 Biomarker phenotype HPO
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.100 Biomarker phenotype HPO
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE OSC-1 cells showed tumour formation in nude mice, whereas OSC-2 cells did not. 9216685 1997
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE This study describes characteristics of two newly established cell lines (OSC-1 and OSC-2), derived from two oesophageal squamous cell carcinomas. 9216685 1997
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 GeneticVariation disease BEFREE Despite extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, we find no evidence that the LS gene is in fact HPE1, implicating another gene located in this chromosomal region in HPE pathogenesis. 10598817 1999
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.010 Biomarker disease BEFREE Despite extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, we find no evidence that the LS gene is in fact HPE1, implicating another gene located in this chromosomal region in HPE pathogenesis. 10598817 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE We hypothesize that differences in the expression of selected tumor suppressor genes, cell surface adhesion molecules, and multidrug resistance glycoproteins could account for some of the reported differences between uterine serous carcinoma (USC) and extrauterine serous carcinomas (ESC), including ovarian and primary peritoneal carcinoma (OSC and PSC, respectively). 11104615 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE USC, OSC, and PSC patients were similar with respect to mean age at diagnosis, mean gravidity, mean parity, personal history of breast cancer, percentage treated with chemotherapy, and survival at 3 and 5 years postdiagnosis. 11104615 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 Biomarker disease BEFREE Significant clinical differences included a high prevalence of nulliparity in OSC (P = 0.05), a low prevalence of Caucasian race in USC (P = 0.008), a paucity of stage I patients in OSC and PSC (P = 0.03), a high prevalence of familial breast cancer in OSC (P = 0.06), and superior 2-year survival in OSC (P = 0.02). 11104615 2000
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		0.010 Biomarker disease BEFREE USC, OSC, and PSC patients were similar with respect to mean age at diagnosis, mean gravidity, mean parity, personal history of breast cancer, percentage treated with chemotherapy, and survival at 3 and 5 years postdiagnosis. 11104615 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE USC, OSC, and PSC patients were similar with respect to mean age at diagnosis, mean gravidity, mean parity, personal history of breast cancer, percentage treated with chemotherapy, and survival at 3 and 5 years postdiagnosis. 11104615 2000
CUI: C0854924
Disease: Papillary serous endometrial carcinoma
Papillary serous endometrial carcinoma 		0.010 Biomarker disease BEFREE Significant clinical differences included a high prevalence of nulliparity in OSC (P = 0.05), a low prevalence of Caucasian race in USC (P = 0.008), a paucity of stage I patients in OSC and PSC (P = 0.03), a high prevalence of familial breast cancer in OSC (P = 0.06), and superior 2-year survival in OSC (P = 0.02). 11104615 2000
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.010 Biomarker disease BEFREE USC, OSC, and PSC patients were similar with respect to mean age at diagnosis, mean gravidity, mean parity, personal history of breast cancer, percentage treated with chemotherapy, and survival at 3 and 5 years postdiagnosis. 11104615 2000
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.300 Biomarker disease CTD_human A toxicogenomic approach to drug-induced phospholipidosis: analysis of its induction mechanism and establishment of a novel in vitro screening system. 15342952 2005