Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225298
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 104
DEAFNESS, AUTOSOMAL RECESSIVE 104 		0.600 Biomarker disease GENOMICS_ENGLAND Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. 27269051 2016
CUI: C4225298
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 104
DEAFNESS, AUTOSOMAL RECESSIVE 104 		0.600 Biomarker disease CTD_human
CUI: C4225298
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 104
DEAFNESS, AUTOSOMAL RECESSIVE 104 		0.600 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 Biomarker disease GENOMICS_ENGLAND Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. 27269051 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. 27269051 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. 24958875 2014
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.100 Biomarker disease HPO
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.020 GeneticVariation phenotype BEFREE On the basis of this case-control study, SNP rs10946737 in FAM65B may be associated with susceptibility to ATDH in Chinese Han anti-TB treatment patients. 30720667 2019
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.020 Biomarker phenotype BEFREE Additionally, polymorphisms in ST6 β-galactosamide α-2, 6-sialyltranferase-1 (ST6GAL1), which plays a role in systemic inflammatory response, and variants in intron of family with sequence similarity-65 member-B (FAM65B) that play roles in liver inflammation displayed association with flucloxacillin and antituberculosis drug-induced hepatotoxicity, respectively. 28253087 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 Biomarker group BEFREE Our findings reveal a novel role for the circRNA in regulating autophagy and ACR-Pink1-FAM65B axis as a regulator of autophagy in the heart will be potential therapeutic targets in treatment of cardiovascular diseases. 30349076 2019
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0.010 Biomarker disease BEFREE Following examination of the association of the identified SNPs to serum concentrations of triglycerides, HDL‑cholesterol, or LDL‑cholesterol, linkage disequilibrium of the SNPs, and results of previous genome‑wide association studies, we newly identified chromosomal region 19p12 as a susceptibility locus for hypertriglyceridemia, eight loci (MOB3C‑TMOD4, LPGAT1, EHD3, COL6A3, ZNF860‑CACNA1D, COL6A5, DCLRE1C, ZNF77) for hypo‑HDL‑cholesterolemia, and three loci (KIAA0319‑FAM65B, UBD, LOC105375015) for hyper‑LDL‑cholesterolemia. 30365130 2019
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 Biomarker group BEFREE Additionally, polymorphisms in ST6 β-galactosamide α-2, 6-sialyltranferase-1 (ST6GAL1), which plays a role in systemic inflammatory response, and variants in intron of family with sequence similarity-65 member-B (FAM65B) that play roles in liver inflammation displayed association with flucloxacillin and antituberculosis drug-induced hepatotoxicity, respectively. 28253087 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group BEFREE Down-regulation of Fam65b in developing muscle causes changes consistent with muscle disease.-Balasubramanian, A., Kawahara, G., Gupta, V. A., Rozkalne, A., Beauvais, A., Kunkel, L. M., Gussoni, E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. 24687993 2014
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 Biomarker group BEFREE Fam65b binds to HDAC6 and dysferlin, the protein mutated in limb girdle muscular dystrophy 2B. 24687993 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE PC3 tumors seeded with holoclones showed dramatic down regulation of FAM65B and dramatic up regulation of MFI2 and LEF1, and unexpectedly, a marked increase in tumor vascularity compared to parental PC3 tumors, suggesting a role of cancer stem cells in tumor angiogenesis. 21190562 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE PC3 tumors seeded with holoclones showed dramatic down regulation of FAM65B and dramatic up regulation of MFI2 and LEF1, and unexpectedly, a marked increase in tumor vascularity compared to parental PC3 tumors, suggesting a role of cancer stem cells in tumor angiogenesis. 21190562 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE PC3 tumors seeded with holoclones showed dramatic down regulation of FAM65B and dramatic up regulation of MFI2 and LEF1, and unexpectedly, a marked increase in tumor vascularity compared to parental PC3 tumors, suggesting a role of cancer stem cells in tumor angiogenesis. 21190562 2010
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		0.010 AlteredExpression phenotype BEFREE PC3 tumors seeded with holoclones showed dramatic down regulation of FAM65B and dramatic up regulation of MFI2 and LEF1, and unexpectedly, a marked increase in tumor vascularity compared to parental PC3 tumors, suggesting a role of cancer stem cells in tumor angiogenesis. 21190562 2010
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3 		0.010 AlteredExpression disease BEFREE PC3 tumors seeded with holoclones showed dramatic down regulation of FAM65B and dramatic up regulation of MFI2 and LEF1, and unexpectedly, a marked increase in tumor vascularity compared to parental PC3 tumors, suggesting a role of cancer stem cells in tumor angiogenesis. 21190562 2010