COL4A6, collagen type IV alpha 6 chain, 1288

N. diseases: 43; N. variants: 10
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: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6
disease Disease or Syndrome 1 1 0.700 limited 1.000 3 1 1998 2015
Leiomyomatosis, esophageal and vulval, with nephropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 2 0.510 None 1.000 3 1998 2013
CUI: C4552766
Disease: Miscarriage
Miscarriage
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.300 None 1.000 1 2008 2008
CUI: C0086533
Disease: Leiomyoma, Epithelioid
Leiomyoma, Epithelioid
disease Neoplasms Neoplastic Process 4 0.300 None 1.000 1 2006 2006
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 109 0.300 None 1.000 1 2008 2008
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.300 None 1.000 1 2008 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 None 1.000 1 2008 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.100 None 0.895 19 3 1994 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation
phenotype Finding 5 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C4024984
Disease: Diffuse leiomyomatosis
Diffuse leiomyomatosis
disease Neoplasms Neoplastic Process 2 0.080 None 0.875 8 1997 2013
CUI: C0206654
Disease: Leiomyomatosis
Leiomyomatosis
disease Neoplasms Neoplastic Process 21 0.070 None 0.714 7 1994 2013
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 13 8 0.060 None 0.667 6 1995 2014
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.030 None 0.667 3 1995 2014
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 24 0.020 None 1.000 2 1998 1999
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2006 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.020 None 1.000 2 1998 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2006 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2004 2013
Alport Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2016 2016
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 2014 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.010 None 1.000 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2006 2006