Hyperparathyroidism

Disease Term Disease ID Gene Symbol Classification References Source
FAMILIAL HYPERPARATHYROIDISM
C0271846
VDR Unknown — Disgenet
FAMILIAL ISOLATED HYPERPARATHYROIDISM
99879C4551961MONDO:0015027
CDC73 Unknown
15531515 20301744
Disgenet Orphanet
GCM2 Unknown
27745835
Disgenet GWAS catalog Orphanet
MEN1 Unknown
10664521 12699448 9792884
Disgenet GWAS catalog Orphanet
HYPERPARATHYROIDISM
C0020502EFO_0008506MESH:D006961
TRPV6 Causal — Disgenet
APOL1 Unknown
39024449
GWAS catalog
C1ORF185 Unknown
39024449
GWAS catalog
CASR Unknown
11589681 9011580
CTD Disgenet
CCND1 Unknown
21541686
CTD
CDC73 Unknown — Disgenet
GCM2 Unknown
39024449
Disgenet GWAS catalog
MAFB Unknown
39024449
GWAS catalog
MEN1 Unknown — Disgenet
PTH1R Unknown
11014383
CTD Disgenet
TMEM14B Unknown
39024449
GWAS catalog
HYPERPARATHYROIDISM 1
145000C1840402MESH:C564166MONDO:0007767
CDC73 Causal
12434154 15531515 16720667 29040582
CTD ClinVar Disgenet GWAS catalog HPO
MEN1 Causal — CTD ClinVar Disgenet
B3GALT2 Unknown — Disgenet
HYPERPARATHYROIDISM 2
MESH:C563273
CDC73 Unknown — CTD
HYPERPARATHYROIDISM 2 WITH JAW TUMORS
145001MONDO:0007768
CDC73 Causal — ClinGen ClinVar GenCC HPO
HYPERPARATHYROIDISM 4
617343C4479229MONDO:0024570OMIM:617343
GCM2 Causal
27745835 31671402 32576032 33471711 33536578 34008892 34662886 34967908 35038313
CTD ClinVar Disgenet GWAS catalog HPO
HYPERPARATHYROIDISM, NEONATAL SEVERE
239200C1832615
CASR Unknown — Disgenet HPO
TRPV6 Unknown — Disgenet
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
MESH:C563375
CASR Unknown
7916660
CTD
HYPERPARATHYROIDISM, PRIMARY
C0221002
CASR Unknown — Disgenet
CDKN1B Unknown — Disgenet
MEN1 Unknown — Disgenet
PTH Unknown — Disgenet
VDR Unknown — Disgenet
HYPERPARATHYROIDISM, SECONDARY
C0020503MESH:D006962
ACP5 Unknown
21985997 22373954
CTD Disgenet
ALPL Unknown
22373954
CTD Disgenet
CASR Unknown — Disgenet
CRP Unknown
21350317
CTD Disgenet
IL6 Unknown
21350317
CTD Disgenet
PTH Unknown
21350317 22118402 22373954
CTD Disgenet
HYPERPARATHYROIDISM, TRANSIENT NEONATAL
618188MONDO:0032591
TRPV6 Causal
29861107
ClinVar GWAS catalog HPO
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
99880C1704981
CDC73 Unknown
12434154
Disgenet Orphanet
TRANSIENT NEONATAL HYPERPARATHYROIDISM
C1300287
TRPV6 Unknown — Disgenet