AMELX, amelogenin X-linked, 265

N. diseases: 72; N. variants: 14
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: C1845053
Disease: Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 3 10 0.600 strong 1.000 6 10 1993 2004
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 10 4 0.320 None 1.000 2 1995 1997
CUI: C0399372
Disease: Amelogenesis Imperfecta hypomaturation type
Amelogenesis Imperfecta hypomaturation type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 8 0.300 None 1.000 1 2012 2012
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.200 None 1.000 13 2 1992 2019
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		disease Disease or Syndrome 5 22 0.200 None 1.000 1 2005 2005
CUI: C0348454
Disease: Other hypoparathyroidism
Other hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.200 None 1.000 1 2005 2005
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 29 9 0.200 None 1.000 1 2005 2005
CUI: C4552089
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 		disease Disease or Syndrome 5 0.200 None 1.000 1 2005 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.889 18 1998 2019
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite 		disease Stomatognathic Diseases Anatomical Abnormality 13 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.100 None 0 1
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.070 None 1.000 7 2014 2018
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.070 None 1.000 7 2001 2019
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.070 None 1.000 7 2001 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.040 None 1.000 4 2012 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.040 None 1.000 4 2012 2015
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		disease Endocrine System Diseases Disease or Syndrome 68 4 0.030 None 1.000 3 2002 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.030 None 1.000 3 2009 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2014 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2016 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2016 2016
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.020 None 0.500 2 3 2011 2012