FANCD2, FA complementation group D2, 2177

N. diseases: 272; N. variants: 23
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: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		disease Disease or Syndrome 22 1 0.020 None 1.000 2 2015 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2011 2011
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		disease Disease or Syndrome 62 24 0.010 None 1.000 1 2015 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2014 2014
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2017 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.300 strong 1.000 1 2017 2017
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		disease Disease or Syndrome 41 0.010 None 1.000 1 2002 2002
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		disease Disease or Syndrome 9 11 0.010 None 1.000 1 2017 2017
CUI: C3826743
Disease: Anemia in children
Anemia in children 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2001 2001
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0