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: 151613
Gene Symbol: TTC14
TTC14
tetratricopeptide repeat domain 14 1.2E-09
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 1.000 3 4 2011 2013
Entrez Id: 100131047
Gene Symbol: DNAH8-AS1
DNAH8-AS1
DNAH8 antisense RNA 1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 1.000 1 6 2014 2014
Entrez Id: 101927117
Gene Symbol: PLCG1-AS1
PLCG1-AS1
PLCG1 antisense RNA 1
DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
phenotype 0.100 None 0 1
Entrez Id: 11180
Gene Symbol: WDR6
WDR6
WD repeat domain 6 2.1E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 114625
Gene Symbol: ERMAP
ERMAP
erythroblast membrane associated protein (Scianna blood group) 4.9E-10
CUI: C1862204
Disease: RADIN BLOOD GROUP ANTIGEN
RADIN BLOOD GROUP ANTIGEN
phenotype 0.100 None 0 1
Entrez Id: 114625
Gene Symbol: ERMAP
ERMAP
erythroblast membrane associated protein (Scianna blood group) 4.9E-10
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2 PHENOTYPE
phenotype 0.100 None 0 1
Entrez Id: 130162
Gene Symbol: CLHC1
CLHC1
clathrin heavy chain linker domain containing 1 5.6E-21
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype 0.100 None 0 1
Entrez Id: 25763
Gene Symbol: H2AP
H2AP
H2A.P histone
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 347365
Gene Symbol: ITIH6
ITIH6
inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 3750
Gene Symbol: KCND1
KCND1
potassium voltage-gated channel subfamily D member 1 0.26
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 399671
Gene Symbol: HEATR4
HEATR4
HEAT repeat containing 4 1.4E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 440689
Gene Symbol: H2BC18
H2BC18
H2B clustered histone 18 4.6E-03
IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF
phenotype 0.100 None 0 1
Entrez Id: 503834
Gene Symbol: DPRX
DPRX
divergent-paired related homeobox 2.4E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 54908
Gene Symbol: SPDL1
SPDL1
spindle apparatus coiled-coil protein 1 8.6E-17
CUI: C0410916
Disease: Neonatal Death
Neonatal Death
phenotype 0.100 None 0 1
Entrez Id: 55663
Gene Symbol: ZNF446
ZNF446
zinc finger protein 446 5.7E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7265
Gene Symbol: TTC1
TTC1
tetratricopeptide repeat domain 1 2.5E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype 0.100 None 0 1
Entrez Id: 79959
Gene Symbol: CEP76
CEP76
centrosomal protein 76 4.5E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 93343
Gene Symbol: MVB12A
MVB12A
multivesicular body subunit 12A 8.0E-06
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
phenotype 0.100 None 0 1
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C4016415
Disease: TNF RECEPTOR BINDING, ALTERED
TNF RECEPTOR BINDING, ALTERED
phenotype 0.100 None 0 1
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.170 None 1.000 365 201 1989 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.977 322 153 1988 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
disease 0.100 None 1.000 99 39 1990 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 0.700 None 0.961 6 27 1986 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.947 5 6 1987 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.500 None 0.941 5 2 1994 2019