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: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		cystathionine beta-synthase like 0.540 0.808
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease 0.300 None 0.988 7 0 1992 2019
Entrez Id: 102723475
Gene Symbol: KCNE1B
KCNE1B 		potassium voltage-gated channel subfamily E regulatory subunit 1B 1.000 0.077
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 0.200 None 1.000 6 0 1996 2005
Entrez Id: 102724652
Gene Symbol: CRYAA2
CRYAA2 		crystallin alpha A2 0.821 0.192
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.210 None 1.000 6 0 1996 2018
Entrez Id: 102724652
Gene Symbol: CRYAA2
CRYAA2 		crystallin alpha A2 0.821 0.192
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		disease 0.200 None 1.000 6 0 1996 2009
Entrez Id: 102724652
Gene Symbol: CRYAA2
CRYAA2 		crystallin alpha A2 0.821 0.192
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		disease 0.200 None 1.000 6 0 1996 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		disease 1.000 None 0.974 3 0 2000 2019
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0344692
Disease: Isomerism of atrial appendages
Isomerism of atrial appendages 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876171
Disease: Polyasplenia
Polyasplenia 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876172
Disease: VAH, AUTOSOMAL RECESSIVE
VAH, AUTOSOMAL RECESSIVE 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876173
Disease: Heterotaxy, Visceroatrial, Autosomal Recessive
Heterotaxy, Visceroatrial, Autosomal Recessive 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C2910124
Disease: Isomerism of atrial appendages with asplenia or polysplenia
Isomerism of atrial appendages with asplenia or polysplenia 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease 0.900 None 1.000 1 0 1992 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.300 None 0.972 1 0 2002 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group 0.220 None 1.000 1 0 2001 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		disease 0.200 None 1.000 1 0 2015 2015