NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 35 5 1967 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.050 None 1.000 5 1997 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 3 2 2017 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 3 2 2017 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1 1994 2003
CUI: C0851265
Disease: Learning problems
Learning problems 		disease Mental or Behavioral Dysfunction 4 0.020 None 1.000 2 2001 2012
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2001 2001
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1998 1998
CUI: C0562350
Disease: Hip circumference
Hip circumference 		phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2015 2015
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma 		disease Neoplastic Process 45 0.010 None 1.000 1 2003 2003
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1334708
Disease: Metaplastic carcinoma of breast
Metaplastic carcinoma of breast 		disease Neoplastic Process 31 0.010 None 1.000 1 2019 2019
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 1999 1999
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 16 62 0.010 None 1.000 1 2017 2017
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		disease Disease or Syndrome 2 3 0.100 None 1.000 1 2 2018 2018
CUI: C3829122
Disease: Mesenchymal Glioblastoma
Mesenchymal Glioblastoma 		disease Neoplastic Process 21 0.010 None 1.000 1 2014 2014
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 3
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		disease Neoplastic Process 90 5 0.100 None 0 1