Congenital anomalies of kidney and urinary tract

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
610805MONDO:0012561
DSTYK Causal
23862974
ClinVar GWAS catalog HPO
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
143400C5574705MONDO:0027676
TBX18 Causal
26235987
ClinVar Disgenet GWAS catalog HPO
BMP4 Unknown — Disgenet
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
618270C4748921MONDO:0032646
NRIP1 Causal
25790160 28381549 30143558
ClinVar Disgenet GWAS catalog HPO
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
617641C4539968MONDO:0060549
PBX1 Causal
18849531 28566479 29036646 31625560 34797033 35451537
ClinGen ClinVar Disgenet GWAS catalog HPO
SON Unknown — Disgenet
CONGENITAL ANOMALY OF KIDNEY AND URINARY TRACT
MONDO:0019719MONDO_0019719
SLIT2 Causal
15130495 26026792
GWAS catalog
ZMYM2 Causal
32891193
CTD
ARHGEF6 Unknown — GenCC
CHD1L Unknown — ClinGen GenCC
DLG5 Unknown — GenCC
NUDT12 Unknown
40465716
GWAS catalog
SHROOM4 Unknown
16249884 26740508
Disgenet
SIX2 Unknown
24429398
GenCC
SRGAP1 Unknown
26026792
GWAS catalog
TBC1D1 Unknown — GenCC
TBC1D31 Unknown
37468454
GWAS catalog
TBX6 Unknown — GenCC
TSHZ3 Unknown — GenCC
UPK3A Unknown
26545877 26708751 26708753
ClinGen
VWA2 Unknown — GenCC