Split-Hand/foot Malformation 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPL067 MIFTS: 38	Split-Hand/foot Malformation 1 Categories: Rare diseases, Bone diseases, Ear diseases, Genetic diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Split-Hand/foot Malformation 1

MalaCards integrated aliases for Split-Hand/foot Malformation 1:

Name: Split-Hand/foot Malformation 1 ⁵⁷ ²⁹ ⁶

Ectrodactyly ⁵⁷ ⁷⁶ ⁵⁵ ⁶ ⁷³

Shfm1 ⁵⁷ ¹² ⁵³

Shfd1 ⁵⁷ ¹² ⁵³

Split Hand-Foot Malformation 1 ¹² ¹⁵

Split Hand Foot Deformity 1 ⁵³ ⁷³

Split-Hand Deformity ⁵⁷ ⁷⁶

Split-Hand/foot Malformation 1 with or Without Deafness ⁵⁷

Split-Hand/foot Deformity 1; Shfd1; Shsf1 ⁵⁷

Split Hand/foot Malformation Type 1 ¹³

Split Hand/foot Malformation 1 ⁵⁷

Split Hand Foot Malformation 1 ⁵³

Split-Hand/foot Malformation ⁷³

Split-Hand/foot Deformity 1 ⁵⁷

Split Hand Malformation1 ⁵³

Split Hand Deformity 1 ⁵³

Ectrodactyly; Ecd ⁵⁷

Ecd ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
incomplete penetrance
contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 , dlx5 , and dlx6 genes and possible regulatory elements in the region
one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)

HPO:

³²

split-hand/foot malformation 1:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Bone diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of upper limb

Lobster-claw hand

External Ids:

OMIM ⁵⁷ 183600

Disease Ontology ¹² DOID:0090021

ICD10 ³³ Q71.6

MedGen ⁴² C2931019

UMLS ⁷³ C2931019 C2699510

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Summaries for Split-Hand/foot Malformation 1

NIH Rare Diseases : ⁵³ Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

MalaCards based summary : Split-Hand/foot Malformation 1, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and isolated split hand-split foot malformation. An important gene associated with Split-Hand/foot Malformation 1 is SEM1 (SEM1, 26S Proteasome Complex Subunit). Affiliated tissues include bone, and related phenotypes are clinodactyly and intellectual disability

Disease Ontology : ¹² A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

OMIM : ⁵⁷ Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). (183600)

Wikipedia : ⁷⁶ Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger)... more...

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Related Diseases for Split-Hand/foot Malformation 1

Diseases in the Split Hand-Foot Malformation family:

Split-Hand/foot Malformation 1	Split-Hand/foot Malformation 6
Split-Hand/foot Malformation 3	Split-Hand/foot Malformation 2
Split-Hand/foot Malformation 4	Split-Hand/foot Malformation 5

Diseases related to Split-Hand/foot Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)

#	Related Disease	Score	Top Affiliating Genes
1	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	33.7	DLX5 SEM1
2	isolated split hand-split foot malformation	31.8	DLX5 SEM1 TP63
3	split hand-foot malformation	29.2	DLX5 MAP3K20 SEM1 TP63
4	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	12.4
5	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	12.3
6	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	12.2
7	femur bifid with monodactylous ectrodactyly	12.1
8	intellectual disability-spasticity-ectrodactyly syndrome	12.1
9	fibular aplasia ectrodactyly	12.1
10	ectrodactyly and ectodermal dysplasia without cleft lip/palate	12.0
11	brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	12.0
12	femur, unilateral bifid, with monodactylous ectrodactyly	12.0
13	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	12.0
14	cleft palate, cardiac defect, genital anomalies, and ectrodactyly	12.0
15	ectrodactyly cardiopathy dysmorphism	12.0
16	ectrodactyly-cleft palate syndrome	11.9
17	hartsfield syndrome	11.9
18	ectrodactyly-polydactyly	11.9
19	anonychia-ectrodactyly	11.8
20	phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia	11.8
21	phocomelia ectrodactyly deafness sinus arrhythmia	11.8
22	tibial aplasia-ectrodactyly syndrome	11.8
23	ectrodactyly of lower limbs, congenital heart defect, and micrognathia	11.7
24	cleft palate cardiac defect ectrodactyly	11.7
25	holoprosencephaly ectrodactyly cleft lip palate	11.7
26	hydrops ectrodactyly syndactyly	11.7
27	short stature monodactylous ectrodactyly cleft palate	11.7
28	tibial aplasia ectrodactyly hydrocephalus	11.7
29	adult syndrome	11.7
30	atrioventricular septal defect	11.7
31	limb-mammary syndrome	11.6
32	microphthalmia, syndromic 8	11.6
33	split-hand/foot malformation with long bone deficiency 1	11.5
34	triphalangeal thumbs with brachyectrodactyly	11.5
35	split-foot deformity with mandibulofacial dysostosis	11.5
36	acrofacial dysostosis 1, nager type	11.3
37	erdheim-chester disease	11.3
38	hemifacial atrophy, progressive	10.9
39	cerebritis	10.1
40	lipogranulomatosis	10.0
41	breast cancer	9.9
42	paranoid personality disorder	9.9	DLX5 SEM1
43	parametritis	9.8
44	hemiplegic migraine	9.8
45	split-hand/foot malformation 6	9.7	DLX5 SEM1 TP63
46	split-hand/foot malformation 5	9.7	DLX5 SEM1 TP63
47	creutzfeldt-jakob disease	9.7
48	multiple system atrophy 1	9.7
49	alexander disease	9.7
50	neurodegeneration with brain iron accumulation 1	9.7

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1:

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Symptoms & Phenotypes for Split-Hand/foot Malformation 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Feet:
clinodactyly
ectrodactyly
split foot
broad hallux

Skeletal Hands:
split hand
ectrodactyly
triphalangeal thumbs
aplasia of single digital ray
hypoplasia, fusion, and contractures of post-axial fingers

Clinical features from OMIM:

183600

Human phenotypes related to Split-Hand/foot Malformation 1:

³² (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	clinodactyly ³²		HP:0030084
2	intellectual disability ³²	very rare (1%)	HP:0001249
3	hearing impairment ³²	very rare (1%)	HP:0000365
4	sensorineural hearing impairment ³²		HP:0000407
5	cleft palate ³²	frequent (33%)	HP:0000175
6	abnormality of the pinna ³²	very rare (1%)	HP:0000377
7	split hand ³²	hallmark (90%)	HP:0001171
8	abnormality of the genital system ³²		HP:0000078
9	cutaneous finger syndactyly ³²		HP:0010554
10	triphalangeal thumb ³²		HP:0001199
11	abnormality of the urinary system ³²		HP:0000079
12	abnormality of cardiovascular system morphology ³²	very rare (1%)	HP:0030680
13	median cleft lip ³²		HP:0000161
14	ectrodactyly ³²		HP:0100257
15	2-3 toe syndactyly ³²		HP:0004691
16	syndactyly ³²	frequent (33%)	HP:0001159
17	split foot ³²	hallmark (90%)	HP:0001839
18	foot oligodactyly ³²	frequent (33%)	HP:0001849
19	broad hallux ³²		HP:0010055
20	lacrimal duct aplasia ³²		HP:0007925
21	hand oligodactyly ³²	frequent (33%)	HP:0001180

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Drugs & Therapeutics for Split-Hand/foot Malformation 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63	Recruiting	NCT02896387

Search NIH Clinical Center for Split-Hand/foot Malformation 1

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Genetic Tests for Split-Hand/foot Malformation 1

Genetic tests related to Split-Hand/foot Malformation 1:

#	Genetic test	Affiliating Genes
1	Split-Hand/foot Malformation 1 ²⁹

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Anatomical Context for Split-Hand/foot Malformation 1

MalaCards organs/tissues related to Split-Hand/foot Malformation 1:

⁴¹

Bone

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Publications for Split-Hand/foot Malformation 1

Articles related to Split-Hand/foot Malformation 1:

#	Title	Authors	Year
1	Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )	Rasmussen M.B....TranebjA	2016

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Genes for Split-Hand/foot Malformation 1

Genes related to Split-Hand/foot Malformation 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SEM1	SEM1, 26S Proteasome Complex Subunit	Protein Coding	517.6	Structural variation ⁵⁷ GeneCards inferred via : Publications (show sections)
2	DLX5	Distal-Less Homeobox 5	Protein Coding	434.62	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24496061 25196357
3	MAP3K20	Mitogen-Activated Protein Kinase Kinase Kinase 20	Protein Coding	418.19	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	TP63	Tumor Protein P63	Protein Coding	20.9	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	14656652 11462173 15736220 (more) 11903230 11528512 12445213 12446784 12939657 15476176 17312919 17041931 16319531 17609671 12164578 19903181 15988026 15491445 11012604 19716498
5	ZNF133	Zinc Finger Protein 133	Protein Coding	17.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ZNF143	Zinc Finger Protein 143	Protein Coding	16.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	ZNF148	Zinc Finger Protein 148	Protein Coding	16.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ZNF44	Zinc Finger Protein 44	Protein Coding	15.95	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Split-Hand/foot Malformation 1

ClinVar genetic disease variations for Split-Hand/foot Malformation 1:

⁶

(show top 50) (show all 138)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DLX5	NM_005221.5(DLX5): c.558G> T (p.Gln186His)	single nucleotide variant	Pathogenic	rs398122527	GRCh37	Chromosome 7, 96650360: 96650360
2	DLX5	NM_005221.5(DLX5): c.558G> T (p.Gln186His)	single nucleotide variant	Pathogenic	rs398122527	GRCh38	Chromosome 7, 97021048: 97021048
3	DLX5	NM_005221.5(DLX5): c.115G> T (p.Glu39Ter)	single nucleotide variant	Pathogenic	rs587777842	GRCh37	Chromosome 7, 96653821: 96653821
4	DLX5	NM_005221.5(DLX5): c.115G> T (p.Glu39Ter)	single nucleotide variant	Pathogenic	rs587777842	GRCh38	Chromosome 7, 97024509: 97024509
5	MAP3K20	NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys)	single nucleotide variant	Pathogenic	rs863225437	GRCh37	Chromosome 2, 174097087: 174097087
6	MAP3K20	NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys)	single nucleotide variant	Pathogenic	rs863225437	GRCh38	Chromosome 2, 173232359: 173232359
7	TP63	NM_003722.4(TP63): c.859C> T (p.Leu287=)	single nucleotide variant	Benign/Likely benign	rs33979049	GRCh37	Chromosome 3, 189584563: 189584563
8	TP63	NM_003722.4(TP63): c.859C> T (p.Leu287=)	single nucleotide variant	Benign/Likely benign	rs33979049	GRCh38	Chromosome 3, 189866774: 189866774
9	TP63	NM_003722.4(TP63): c.1587C> T (p.Leu529=)	single nucleotide variant	Likely benign	rs141847552	GRCh38	Chromosome 3, 189889419: 189889419
10	TP63	NM_003722.4(TP63): c.1587C> T (p.Leu529=)	single nucleotide variant	Likely benign	rs141847552	GRCh37	Chromosome 3, 189607208: 189607208
11	TP63	NM_003722.4(TP63): c.*45C> T	single nucleotide variant	Benign	rs34057105	GRCh38	Chromosome 3, 189894547: 189894547
12	TP63	NM_003722.4(TP63): c.*45C> T	single nucleotide variant	Benign	rs34057105	GRCh37	Chromosome 3, 189612336: 189612336
13	TP63	NM_003722.4(TP63): c.1531C> A (p.Pro511Thr)	single nucleotide variant	Likely benign	rs148076109	GRCh37	Chromosome 3, 189607152: 189607152
14	TP63	NM_003722.4(TP63): c.1531C> A (p.Pro511Thr)	single nucleotide variant	Likely benign	rs148076109	GRCh38	Chromosome 3, 189889363: 189889363
15	TP63	NM_003722.4(TP63): c.303G> A (p.Ser101=)	single nucleotide variant	Likely benign	rs186864205	GRCh37	Chromosome 3, 189456542: 189456542
16	TP63	NM_003722.4(TP63): c.303G> A (p.Ser101=)	single nucleotide variant	Likely benign	rs186864205	GRCh38	Chromosome 3, 189738753: 189738753
17	TP63	NM_003722.4(TP63): c.699A> G (p.Lys233=)	single nucleotide variant	Likely benign	rs199727371	GRCh37	Chromosome 3, 189582140: 189582140
18	TP63	NM_003722.4(TP63): c.699A> G (p.Lys233=)	single nucleotide variant	Likely benign	rs199727371	GRCh38	Chromosome 3, 189864351: 189864351
19	TP63	NM_003722.4(TP63): c.766+3A> G	single nucleotide variant	Uncertain significance	rs886058221	GRCh37	Chromosome 3, 189582210: 189582210
20	TP63	NM_003722.4(TP63): c.766+3A> G	single nucleotide variant	Uncertain significance	rs886058221	GRCh38	Chromosome 3, 189864421: 189864421
21	TP63	NM_003722.4(TP63): c.1652+14A> C	single nucleotide variant	Likely benign	rs150685395	GRCh38	Chromosome 3, 189889498: 189889498
22	TP63	NM_003722.4(TP63): c.1652+14A> C	single nucleotide variant	Likely benign	rs150685395	GRCh37	Chromosome 3, 189607287: 189607287
23	TP63	NM_003722.4(TP63): c.235_238delGTAG	deletion	Uncertain significance	rs886058225	GRCh38	Chromosome 3, 189894737: 189894740
24	TP63	NM_003722.4(TP63): c.235_238delGTAG	deletion	Uncertain significance	rs886058225	GRCh37	Chromosome 3, 189612526: 189612529
25	TP63	NM_003722.4(TP63): c.*627T> C	single nucleotide variant	Likely benign	rs184452906	GRCh38	Chromosome 3, 189895129: 189895129
26	TP63	NM_003722.4(TP63): c.*627T> C	single nucleotide variant	Likely benign	rs184452906	GRCh37	Chromosome 3, 189612918: 189612918
27	TP63	NM_003722.4(TP63): c.*2123C> T	single nucleotide variant	Likely benign	rs36064124	GRCh38	Chromosome 3, 189896625: 189896625
28	TP63	NM_003722.4(TP63): c.*2123C> T	single nucleotide variant	Likely benign	rs36064124	GRCh37	Chromosome 3, 189614414: 189614414
29	TP63	NM_003722.4(TP63): c.*2197C> A	single nucleotide variant	Uncertain significance	rs886058237	GRCh37	Chromosome 3, 189614488: 189614488
30	TP63	NM_003722.4(TP63): c.*2197C> A	single nucleotide variant	Uncertain significance	rs886058237	GRCh38	Chromosome 3, 189896699: 189896699
31	TP63	NM_003722.4(TP63): c.*2625A> T	single nucleotide variant	Likely benign	rs35694511	GRCh38	Chromosome 3, 189897127: 189897127
32	TP63	NM_003722.4(TP63): c.*2625A> T	single nucleotide variant	Likely benign	rs35694511	GRCh37	Chromosome 3, 189614916: 189614916
33	TP63	NM_003722.4(TP63): c.2719_2720delTT	deletion	Likely benign	rs886058242	GRCh38	Chromosome 3, 189897221: 189897222
34	TP63	NM_003722.4(TP63): c.2719_2720delTT	deletion	Likely benign	rs886058242	GRCh37	Chromosome 3, 189615010: 189615011
35	TP63	NM_003722.4(TP63): c.409G> C (p.Asp137His)	single nucleotide variant	Uncertain significance	rs762935508	GRCh37	Chromosome 3, 189526145: 189526145
36	TP63	NM_003722.4(TP63): c.409G> C (p.Asp137His)	single nucleotide variant	Uncertain significance	rs762935508	GRCh38	Chromosome 3, 189808356: 189808356
37	TP63	NM_003722.4(TP63): c.766+5G> A	single nucleotide variant	Uncertain significance	rs374425727	GRCh37	Chromosome 3, 189582212: 189582212
38	TP63	NM_003722.4(TP63): c.766+5G> A	single nucleotide variant	Uncertain significance	rs374425727	GRCh38	Chromosome 3, 189864423: 189864423
39	TP63	NM_003722.4(TP63): c.1374A> G (p.Ser458=)	single nucleotide variant	Uncertain significance	rs141794685	GRCh38	Chromosome 3, 189886418: 189886418
40	TP63	NM_003722.4(TP63): c.1374A> G (p.Ser458=)	single nucleotide variant	Uncertain significance	rs141794685	GRCh37	Chromosome 3, 189604207: 189604207
41	TP63	NM_003722.4(TP63): c.*232T> C	single nucleotide variant	Likely benign	rs569527175	GRCh38	Chromosome 3, 189894734: 189894734
42	TP63	NM_003722.4(TP63): c.*232T> C	single nucleotide variant	Likely benign	rs569527175	GRCh37	Chromosome 3, 189612523: 189612523
43	TP63	NM_003722.4(TP63): c.*379T> A	single nucleotide variant	Likely benign	rs192879052	GRCh38	Chromosome 3, 189894881: 189894881
44	TP63	NM_003722.4(TP63): c.*379T> A	single nucleotide variant	Likely benign	rs192879052	GRCh37	Chromosome 3, 189612670: 189612670
45	TP63	NM_003722.4(TP63): c.*519C> T	single nucleotide variant	Uncertain significance	rs886058228	GRCh38	Chromosome 3, 189895021: 189895021
46	TP63	NM_003722.4(TP63): c.*519C> T	single nucleotide variant	Uncertain significance	rs886058228	GRCh37	Chromosome 3, 189612810: 189612810
47	TP63	NM_003722.4(TP63): c.*638C> G	single nucleotide variant	Benign	rs6444406	GRCh38	Chromosome 3, 189895140: 189895140
48	TP63	NM_003722.4(TP63): c.*638C> G	single nucleotide variant	Benign	rs6444406	GRCh37	Chromosome 3, 189612929: 189612929
49	TP63	NM_003722.4(TP63): c.*854A> G	single nucleotide variant	Likely benign	rs187751631	GRCh37	Chromosome 3, 189613145: 189613145
50	TP63	NM_003722.4(TP63): c.*854A> G	single nucleotide variant	Likely benign	rs187751631	GRCh38	Chromosome 3, 189895356: 189895356

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Expression for Split-Hand/foot Malformation 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation 1.

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Pathways for Split-Hand/foot Malformation 1

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GO Terms for Split-Hand/foot Malformation 1

Cellular components related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	9.17	DLX5 MAP3K20 TP63 ZNF133 ZNF143 ZNF148

Biological processes related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription, DNA-templated	GO:0006355	9.73	DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44
2	positive regulation of transcription by RNA polymerase II	GO:0045944	9.71	DLX5 TP63 ZNF143 ZNF148
3	cell proliferation	GO:0008283	9.54	DLX5 MAP3K20 TP63
4	transcription by RNA polymerase II	GO:0006366	9.46	DLX5 TP63 ZNF143 ZNF148
5	epithelial cell differentiation	GO:0030855	9.43	DLX5 TP63
6	embryonic limb morphogenesis	GO:0030326	9.32	DLX5 TP63
7	transcription, DNA-templated	GO:0006351	9.1	DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44
8	anatomical structure formation involved in morphogenesis	GO:0048646	8.96	DLX5 TP63

Molecular functions related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	metal ion binding	GO:0046872	9.85	MAP3K20 TP63 ZNF133 ZNF143 ZNF148 ZNF44
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.5	DLX5 ZNF143 ZNF148
3	sequence-specific DNA binding	GO:0043565	9.46	DLX5 TP63 ZNF133 ZNF148
4	transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0001077	9.43	DLX5 TP63 ZNF143
5	DNA binding	GO:0003677	9.43	DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44
6	RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	9.1	DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44

Sources

Sources for Split-Hand/foot Malformation 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia