Distal arthrogryposis

Disease Term Disease ID Gene Symbol Classification References Source
ARTHROGRYPOSIS, DISTAL, IIA 11
MONDO:0031045
MET Causal — ClinVar GenCC
ARTHROGRYPOSIS, DISTAL, TYPE 1
C0220662
CNTNAP1 Unknown — Disgenet
MET Unknown — Disgenet
MYBPC1 Unknown — Disgenet
MYH3 Unknown — Disgenet
MYH8 Unknown — Disgenet
NALCN Unknown — Disgenet
TNNI2 Unknown — Disgenet
TNNT3 Unknown — Disgenet
TPM2 Unknown — Disgenet
ARTHROGRYPOSIS, DISTAL, TYPE 11
620019C5774205
MET Unknown — Disgenet HPO
ARTHROGRYPOSIS, DISTAL, TYPE 12
620545C5882704MONDO:0957819
ADAMTS15 Causal
35962790
ClinVar Disgenet HPO
ARTHROGRYPOSIS, DISTAL, TYPE 1A
108120MONDO:0007157OMIM:108120
TPM2 Causal
12592607
CTD ClinVar HPO
ARTHROGRYPOSIS, DISTAL, TYPE 1B
614335C3280526MONDO:0013698OMIM:614335
MYBPC1 Causal
20045868 23657818 23873045 25679999
CTD ClinVar Disgenet HPO
ARTHROGRYPOSIS, DISTAL, TYPE 1C
619110C5436834MONDO:0030847
MYL11 Causal
32707087
ClinVar Disgenet HPO
ARTHROGRYPOSIS, DISTAL, TYPE 2A
193700
MYH3 Unknown — HPO
ARTHROGRYPOSIS, DISTAL, TYPE 2B
C1834523
ADAMTS15 Unknown — Disgenet
MET Unknown — Disgenet
MYH3 Unknown — Disgenet
NALCN Unknown — Disgenet
TNNI2 Unknown — Disgenet
TNNT3 Unknown — Disgenet
TPM2 Unknown — Disgenet
ARTHROGRYPOSIS, DISTAL, TYPE 2B1
C5193014601680
MYH3 Unknown — Disgenet
TNNI2 Unknown — Disgenet HPO
TNNT3 Unknown — Disgenet
TPM2 Unknown — Disgenet
ARTHROGRYPOSIS, DISTAL, TYPE 2B2
618435C5193097MONDO:0032750
TNNT3 Causal
12865991 17194691 19142688 21402185 25337069
ClinVar Disgenet GWAS catalog HPO
ARTHROGRYPOSIS, DISTAL, TYPE 2B3
618436C5193098MONDO:0032751
MYH3 Causal — ClinVar Disgenet HPO
ARTHROGRYPOSIS, DISTAL, TYPE 2B4
C5193002
TPM2 Causal — Disgenet
ARTHROGRYPOSIS, DISTAL, TYPE 3
114300OMIM:114300
PIEZO2 Unknown — CTD HPO
ARTHROGRYPOSIS, DISTAL, TYPE 5
108145OMIM:108145
PIEZO2 Unknown — CTD HPO
ARTHROGRYPOSIS, DISTAL, TYPE 5D
615065OMIM:615065
ECEL1 Unknown — CTD HPO
ARTHROGRYPOSIS, DISTAL, TYPE 7
158300
MYH8 Unknown — HPO
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
617146C4310692MONDO:0014941OMIM:617146
PIEZO2 Causal
25471886 26551544 27607563 27653382 27843126 30941898
CTD ClinVar Disgenet HPO
STK11 Unknown — Disgenet
DISTAL ARTHROGRYPOSIS SYNDROME
C0265213
ADAMTS15 Unknown — Disgenet
ECEL1 Unknown — Disgenet
KLHL7 Unknown — Disgenet
MET Unknown — Disgenet
MYBPC1 Unknown — Disgenet
MYH3 Unknown — Disgenet
MYL11 Unknown — Disgenet
PIEZO2 Unknown — Disgenet
RYR1 Unknown — Disgenet
TNNI2 Unknown — Disgenet
DISTAL ARTHROGRYPOSIS TYPE 1
1146
MYBPC1 Unknown
20045868
Orphanet
MYH3 Unknown
23401156
Orphanet
NALCN Unknown
25683120
Orphanet
TNNI2 Unknown
23401156
Orphanet