Source: CLINVAR

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: 2811
Gene Symbol: GP1BA
GP1BA 		glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 None 1.000 0 1 1990 2020
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 definitive 1.000 0 3 1988 2019
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1 		UbiA prenyltransferase domain containing 1 0.700 0.462 2.0E-02
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		disease 1.000 strong 0.957 0 10 2007 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 1.000 limited 0.987 0 1 1993 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 None 0.942 0 1 1992 2019
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		homeobox A13 0.552 0.654 0.96
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		disease 1.000 None 1.000 0 4 1971 2019
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		homeobox D13 0.483 0.808 8.6E-03
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2 		disease 1.000 None 0.978 0 9 1993 2019
Entrez Id: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease 1.000 strong 1.000 0 2 1978 2018
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 limited 0.982 0 2 1992 2020
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3 		integrin subunit beta 3 0.485 0.846 1.7E-03
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease 1.000 definitive 1.000 0 12 1982 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease 1.000 None 0.975 0 1 2005 2020
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease 1.000 None 0.974 0 12 1994 2018
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		potassium inwardly rectifying channel subfamily J member 10 0.599 0.654 0.15
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		disease 1.000 strong 1.000 0 11 1997 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease 1.000 None 1.000 0 10 1991 2018
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease 1.000 None 0.951 0 7 1992 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease 1.000 None 0.984 0 11 1986 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		disease 1.000 definitive 1.000 0 6 1986 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		disease 1.000 None 1.000 0 20 2001 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 1.000 None 1.000 0 5 1992 2019
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37 		tripartite motif containing 37 0.610 0.654 9.7E-12
CUI: C0524582
Disease: Mulibrey Nanism
Mulibrey Nanism 		disease 1.000 None 1.000 0 13 1999 2020
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		myosin heavy chain 9 0.505 0.808 1.00
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype 1.000 definitive 1.000 0 13 1998 2020
Entrez Id: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease 1.000 definitive 1.000 0 17 1992 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group 1.000 strong 0.941 0 10 1992 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 strong 0.957 0 20 1995 2015
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 0 5 1999 2018