Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age. 31353455 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group BEFREE Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age. 31353455 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455 2019
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455 2019
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.010 Biomarker disease BEFREE FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455 2019
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.010 GeneticVariation group BEFREE By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38-year-old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. 31353455 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE SMR single gene analysis identified one significant and four suggestive genes associated with ALS, including C9ORF72 (P value = 7.08 × 10<sup>-6</sup>), NT5C3L (P value = 1.33 × 10<sup>-5</sup>), GGNBP2 (P value = 1.81 × 10<sup>-5</sup>), ZNHIT3(P value = 2.94 × 10<sup>-5</sup>), and KIAA1600(P value = 9.97 × 10<sup>-5</sup>). 28639078 2018