Source: MGD

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		disease 0.950 None 1.000 0 0 2013 2018
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease 0.260 None 1.000 0 0 2013 2018
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		disease 0.210 None 1.000 0 0 2019 2019
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1862471
Disease: Arthrogryposis-like hand anomaly and sensorineural deafness
Arthrogryposis-like hand anomaly and sensorineural deafness 		phenotype 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1861238
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 10
ARTHROGRYPOSIS, DISTAL, TYPE 10 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1852597
Disease: Arthrogryposis, distal, type 2E
Arthrogryposis, distal, type 2E 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1836756
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder) 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder) 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		disease 0.200 None 0 0
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		disease 0.200 None 0 0