AGAC_TASK3

	A	B	C	D	E
1	PMID	GENE	FUNCTION	DISEASE	This file was updated at 8/7/2019
2	16371368	SHP-2	GOF	leukemias
3		SHP-2	GOF	juvenile myelomonocytic leukemia
4	17435236
5	18031991
6	18594199
7	19338054	MC1R	LOF	melanoma
8	19917135	p53	GOF	endometrial cancer
9	20399956	Shp2	GOF	juvenile myelomonocytic leukemia
10		Shp2	LOF	LEOPARD syndrome
11	20696700
12	21175440
13	21187651
14	22114072	p53	GOF	lung cancer
15	22989750	p53	GOF	lung cancer
16	23264849
17	23460523
18	23680148	p53	GOF	colitis-associated colorectal cancer
19	23967324	p53	GOF	high-grade serous ovarian carcinoma
20	24356649
21	24373920	p53	GOF	osteosarcoma
22	24603336
23	24632946	β-catenin	GOF	anorectal malformations
24	24632949
25	24730569
26	24808909	PCSK9	LOF	hypocholesterolemia
27	24946076	PDGF-B	LOF	familial idiopathic basal ganglia calcification
28		PDGF-Rβ	LOF	familial idiopathic basal ganglia calcification
29	24998848
30	25157153	PPARG	LOF	type 2 diabetes
31	25805808	SHROOM3	LOF	Neural tube defects
32	25915599
33	25954247
34	26197705
35	26331536
36	26494468
37	26586530	PCSK9	GOF	autosomal dominant hypercholesterolemia
38		PCSK9	GOF	premature atherosclerosis
39		PCSK9	LOF	familial hypobetalipoproteinemia
40	26637668	MLK4	LOF	Colon Tumorigenesis
41	27114909
42	27325115	TBR1	LOF	autism spectrum disorders
43	27341992
44	27545680	SON	LOF	Intellectual-Disability Syndrome
45	27662822
46	27678121	FLG	LOF	atopic dermatitis
47	27975164	Col5a2	REG	aortic dysplasia
48	28011069	STAT1	LOF	mycobacteria disease
49		STAT1	GOF	chronic mucocutanneous candidiasis
50	28139313	STAT1	GOF	immunodeficiency and autoimmunity
51	28157721	PCSK9	GOF	LDL cholesterol
52		PCSK9	LOF	cardiovascular disease
53	28708837	APC	LOF	colon cancer tumors
54	28717663	ALMS	LOF	Alström syndrome
55	28720827
56	28817352	ARHGA29	LOF	Nonsyndromic cleft lip and/or palate
57	28890134	GRN	LOF	frontotemporal lobar degeneration
58	28993478
59	30683861	QRICH2	LOF	Male Infertility
60	30617455
61	30575453	PRLR	LOF	Hyperprolactinemia
62	30560918
63	30535219	TTN	LOF	early-onset Atrial Fibrillation
64	30442766
65	30388729
66	30361506	CYBC1	LOF	chronic granulomatous disease
67	30187709	STAT1	GOF	autosomal dominant chronic mucocutaneous candidiasis
68		STAT1	GOF	bronchiectasis
69		STAT1	GOF	Recurrent Respiratory Infections
70	30185553
71	30094493	ERBB2	GOF	breast cancer
72	30068891	ABCC8	GOF	neonatal diabetes mellitus
73		ABCC8	GOF	maturity-onset diabetes
74		ABCC8	GOF	diabetes
75	30042232	NOTCH3	GOF	Lateral meningocele syndrome
76	30038024
77	29970031
78	29969449
79	29941455
80	29935645	NR5A1	LOF	46,XY disorders of sex development
81		NR5A1	LOF	47,XY disorders of sex development
82		NR5A1	LOF	48,XY disorders of sex development
83		NR5A1	LOF	49,XY disorders of sex development
84		NR5A1	LOF	50,XY disorders of sex development
85		NR5A1	LOF	51,XY disorders of sex development
86	29912901	TRIM28	LOF	Wilms tumour
87	29899451
88	29889573	GRN	REG	rontotemporal dementia
89	29861108	TLK2	LOF	Distinct Neurodevelopmental Disorder
90	29852244	KCNJ6	COM	Severe Hyperkinetic Movement Disorder
91		KCNJ6	COM	Severe Hyperkinetic Movement Disorder
92	29844158	PKCa	COM	Alzheimer's disease
93	29738522	MAP1B	LOF	periventricular nodular heterotopia
94	29727693	C11orf70	LOF	Primary Ciliary Dyskinesia
95	29726959	POMC	LOF	early-onset severe obesity
96		PCSK1	LOF	early-onset severe obesity
97		LEPR	LOF	early-onset severe obesity
98		MC4R	LOF	early-onset severe obesity
99	29706558	CDH1	REG	hereditary diffuse gastric cancer
100		PALB2	REG	breast cancer