GenTIGSA Gene Database on Rare Genetic Disorders

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