Source: CTD_human

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: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
disease 0.300 None 0 0
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN
killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C3554517
Disease: COWDEN SYNDROME 4
COWDEN SYNDROME 4
disease 0.500 limited 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 0.400 None 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C3489628
Disease: Thrombocytosis, Autosomal Dominant
Thrombocytosis, Autosomal Dominant
disease 0.300 None 0 0
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
disease 0.400 None 0 0
Entrez Id: 100422910
Gene Symbol: MIR2861
MIR2861
microRNA 2861 0.760 0.269
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
phenotype 0.400 None 0 0
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B
disease 0.300 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
disease 0.300 None 0 0
Entrez Id: 10126
Gene Symbol: DNAL4
DNAL4
dynein axonemal light chain 4 0.780 0.231 2.8E-03
CUI: C4015124
Disease: MIRROR MOVEMENTS 3
MIRROR MOVEMENTS 3
disease 0.400 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268555
Disease: Hyperlysinemia, Periodic
Hyperlysinemia, Periodic
disease 0.300 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
Alpha-Aminoadipic Semialdehyde Deficiency Disease
disease 0.300 None 0 0
Entrez Id: 10167
Gene Symbol: CFM1
CFM1
cystic fibrosis modifier 1 0.931 0.038
CUI: C1859047
Disease: CYSTIC FIBROSIS MODIFIER 1
CYSTIC FIBROSIS MODIFIER 1
disease 0.300 None 0 0
Entrez Id: 102
Gene Symbol: ADAM10
ADAM10
ADAM metallopeptidase domain 10 0.489 0.846 1.00
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1
disease 0.300 None 0 0
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C1835923
Disease: Retinitis Pigmentosa 31
Retinitis Pigmentosa 31
disease 0.600 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
gephyrin 0.608 0.538 1.00
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
Spinocerebellar Ataxia Type 6 (disorder)
disease 0.300 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease 0.300 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
Adrenal Hypoplasia, Cytomegalic Type
phenotype 0.300 None 0 0
Entrez Id: 10299
Gene Symbol: MARCHF6
MARCHF6
membrane associated ring-CH-type finger 6 0.722 0.385 1.00
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
disease 0.300 None 0 0
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1
IKAROS family zinc finger 1 0.533 0.769 1.00
Immunoglobulin Deficiency, Late-Onset
disease 0.300 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
Fukuyama Type Congenital Muscular Dystrophy
disease 0.300 None 0 0