DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033589
rs111033589 		1.000 0.160 12 49091208 missense variant A/G snv 7.0E-06
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 1 2004 2004
dbSNP: rs7296288
rs7296288 		0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.710 1.000 3 2011 2014
dbSNP: rs11168854
rs11168854 		12 49091590 intron variant C/G snv 0.43
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs1480612338
rs1480612338 		0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1480612338
rs1480612338 		0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1480612338
rs1480612338 		0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1480612338
rs1480612338 		0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 1.000 1 2018 2018
dbSNP: rs1565572949
rs1565572949 		0.851 0.160 12 49090039 frameshift variant G/- del
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565572949
rs1565572949 		0.851 0.160 12 49090039 frameshift variant G/- del
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565572949
rs1565572949 		0.851 0.160 12 49090039 frameshift variant G/- del
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565572949
rs1565572949 		0.851 0.160 12 49090039 frameshift variant G/- del
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565573786
rs1565573786 		0.807 0.160 12 49091165 stop gained G/C;T snv
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 1.000 1 2018 2018
dbSNP: rs7296288
rs7296288 		0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs104894346
rs104894346 		1.000 0.200 12 49094511 start lost A/G snv
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565573892
rs1565573892 		1.000 0.200 12 49091322 missense variant C/T snv
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs867798393
rs867798393 		1.000 0.160 12 49090023 missense variant A/G snv
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs7296288
rs7296288 		0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs7296288
rs7296288 		0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs7296288
rs7296288 		0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014