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: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.670 0.500
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 338433
Gene Symbol: SNORD115-1
SNORD115-1
small nucleolar RNA, C/D box 115-1 0.682 0.423
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 3653
Gene Symbol: IPW
IPW
imprinted in Prader-Willi syndrome 0.682 0.423
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1
Prader-Willi region non-protein coding RNA 1 0.670 0.500
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA
UV stimulated scaffold protein A 0.805 0.269 5.4E-25
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
solute carrier family 6 member 19 0.695 0.577 1.8E-24
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 1773
Gene Symbol: DNASE1
DNASE1
deoxyribonuclease 1 0.505 0.846 7.0E-21
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 4597
Gene Symbol: MVD
MVD
mevalonate diphosphate decarboxylase 0.568 0.769 2.7E-17
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 63910
Gene Symbol: SLC17A9
SLC17A9
solute carrier family 17 member 9 0.780 0.346 6.1E-17
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype 0.100 None 0 0