REG3A, regenerating family member 3 alpha, 5068

N. diseases: 148; N. variants: 1
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 0.060 None 1.000 6 2013 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2003 2016
CUI: C2363774
Disease: Neutrophilic asthma
Neutrophilic asthma 		disease Disease or Syndrome 40 2 0.010 None 1.000 1 2018 2018
CUI: C4285911
Disease: C5 palsy
C5 palsy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C4524264
Disease: Uncomplicated pyelonephritis
Uncomplicated pyelonephritis 		disease Disease or Syndrome 10 0.010 None 1.000 1 2001 2001
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2019 2019
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2017 2017
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 229 12 0.010 None 1.000 1 2017 2017
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.030 None 1.000 3 2004 2017
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2004 2004
CUI: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2018 2018
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2007 2007
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.010 None 1.000 1 1991 1991
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 4 0.010 None 1.000 1 2001 2001
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.020 None 1.000 2 2015 2019
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2018 2018
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2017 2017
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 1993 1993
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 22 10 0.010 None 1.000 1 2017 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.070 None 1.000 7 1994 2019
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.030 None 1.000 3 2018 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 435 51 0.210 None 1.000 2 1996 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.020 None 1.000 2 2018 2020
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.200 None 1.000 2 1999 2003