BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2012 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 1999 2000
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2011 2013
Metastasis from malignant tumor of prostate
disease Neoplastic Process 342 18 0.010 None < 0.001 1 2000 2000
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2016 2016
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
phenotype Finding 73 3 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib
phenotype Finding 42 1 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype Finding 46 5 0.100 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype Finding 152 6 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers
phenotype Finding 32 6 0.100 None 0
Proximal muscle weakness in lower limbs
phenotype Finding 30 4 0.100 None 0
Proximal muscle weakness in upper limbs
phenotype Finding 22 3 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
phenotype Finding 24 0.100 None 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature
phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.050 None 1.000 5 2014 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.050 None 1.000 5 2014 2020