Table 1.

Categorization of Gene-Disease Pairs Used to Validate the Gene-Validity Framework

Disease Category	HGNC Gene Symbol	Gene MIM ID	Disease Curated	Inheritance Pattern	Orphanet ID, Phenotype MIM ID	Expert Reviewed Classificationa
Bone marrow failure	NHP2	606470	dyskeratosis congenita	recessive	ORPHA1775, MIM: 613987	limited
	RAD51C	602774	Fanconi anemia	recessive	ORPHA84, MIM: 613390	moderate
	RPS10	603632	Diamond-Blackfan anemia	dominant	ORPHA124, MIM: 613308	definitive
	RPS24	602412	Diamond-Blackfan anemia	dominant	ORPHA124, MIM: 610629	definitive
	TSR2	300945	Diamond-Blackfan anemia with mandibulofacial dysostosis	X-linked	ORPHA124, MIM: 300946	limited
	WRAP53	612661	dyskeratosis congenita	recessive	ORPHA1775, MIM: 613988	moderate
Cardiovascular disorders	AKAP9	604001	Romano-Ward syndrome	dominant	ORPHA101016, MIM: 611820	limited
	SCN4B	608256	long QT syndrome	dominant	ORPHA768, MIM: 611819	limited
	SMAD3	603109	Loeys-Dietz type 3	dominant	ORPHA284984, MIM: 613795	definitive
	TMPO	188380	familial or idiopathic dilated cardiomyopathy	dominant	ORPHA154, MIM: 613740b	contradictory (refuted)
Hereditary cancer	DICER1	606241	pleuropulmonary blastoma	dominant	ORPHA64742, MIM: 601200	definitive
	PALB2	610355	hereditary breast cancer	dominant	ORPHA227535, MIM: 114480	definitive
	PMS2	600259	hereditary pancreatic cancer	N/A	N/A	no reported evidence
	RAD51D	602954	hereditary breast cancer	dominant	ORPHA227535, MIM: 614291	limited
Immune disorders	C1QB	120570	immunodeficiency due to C1Q deficiency	recessive	ORPHA169147, MIM: 613652	definitive
	CD3E	186830	severe combined immunodeficiency	recessive	ORPHA183660, MIM: 615615	definitive
Skeletal dysplasia	ARSD	300002	chondrodysplasia punctata	N/A	N/A	no reported evidence
	COL2A1	120140	spondyloepiphyseal dysplasia (Stanescu type)	dominant	ORPHA94068, MIM: 616583	moderate
	FGFR3	134934	achondroplasia	dominant	ORPHA15, MIM: 100800	definitive
	LBR	600024	anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	recessive	ORPHA448267, none	moderate
Neuromuscular disorders	BAG3	603883	myofibrillar myopathy	dominant	ORPHA593, MIM: 612954	definitive
	MYO9A	604875	arthrogryposis	recessive	ORPHA109007, none	limited
	PSD3	614440	antecubital pterygium syndrome	dominant	ORPHA2987, none	limited
	VPS8	N/A	arthrogryposis	recessive	ORPHA109007, none	limited
Miscellaneous	AGTR2	300034	X-linked non-syndromic intellectual disability	X-linked	ORPHA777, none	contradictory (disputed)
	ATF6	605537	achromatopsia	recessive	ORPHA49382, MIM: 616517	strong
	CHD1L	613039	renal or urinary tract malformation	dominant	ORPHA93545, none	limited
	HNRNPK	600712	Au-Kline syndrome	dominant	ORPHA453504, MIM: 616580	moderate
	LAMB1	150240	lissencephaly 5	recessive	ORPHA352682, MIM: 615191	moderate
	NGLY1	610661	x	recessive	ORPHA404454, MIM: 615273	definitive
	SMARCA1	300012	syndromic intellectual disability with Coffin-Syris-like features	dominant	none, none	moderate
	SKI	164780	Shprintzen-Goldberg	dominant	ORPHA311140, MIM: 182212	definitive
	SOS2	601247	Noonan syndrome	dominant	ORPHA648, MIM: 616559	moderate

Abbreviations: N/A, not applicable.

^aAll gene-disease classifications are accurate as of January 2017.

^bPhenotype MIM was associated with TMPO at the time of curation, but has since been removed due to updated information.