GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Testicular Agenesis(Anorchia) 
An Unknown mode(s) within the Endocrine disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 SRY/6736 sex determining region Y Yp11.2 ChrY, NC_000024.10
(2786855..2787682, complement)
828 nt 1 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 NR5A1/2516 nuclear receptor subfamily 5 group A member 1 9q33.3 Chr9, NC_000009.12
(124481236..124507399, complement)
26164 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 INSL3/3640 insulin like 3 19p13.11 Chr19, NC_000019.10
(17816512..17821519, complement)
5008 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 RXFP2/122042 relaxin family peptide receptor 2 13q13.1 Chr13, NC_000013.11
(31739526..31803389)
63864 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:                GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development